개요
- 뇌실확장증은 뇌 발육 부전이나 위축으로 인한 팽창과 같은 뇌척수액 압력 증가와는 관련이 없는 심실 팽창을 설명하는 데 사용되는 용어입니다. 뇌의 뇌실계통의 병리학적 확장으로 설명되는 뇌수종이라고도 하는 이들 용어는 같은 의미로 사용됩니다. 태아 대뇌 뇌실확장증은 임신 2기때 산과 초음파 검사에서 비교적 흔한 소견이고, 분리된 뇌실확장증도 정상적인 출산과 관련된 정상적인 변이형일 수 있습니다. 뇌실확장증은 신경계, 운동 및/또는 인지 장애를 초래하는 다양한 장애때문에 발생할 수 있습니다. 뇌실확장증은 선천성 감염, 염색체 및 추가적인 구조적 이상과 관련된 가장 흔한 비정상적인 초음파 소견 중 하나입니다.
- Igenomix 뇌실확장증 정밀 패널은 궁극적으로 질병의 개선된 관리 및 예후로 이어지는 잠재적인 증후군성 연관을 통해 직접적이고 정확한 감별 진단을 내리고, 초음파 소견을 관련시키는 데 사용될 수 있습니다. 또한, 관련 유전자의 스펙트럼을 완전히 이해하기 위해 차세대염기서열분석(NGS)을 사용하여 이러한 질병과 관련된 유전자를 종합적으로 분석합니다.
유전자와 질병
유전자 | OMIM 질병 | 유전* | % 유전자 커버리지(20x) | HGMD** |
ACD | Dyskeratosis Congenita, Melanoma, Hoyeraal- Hreidarsson Syndrome |
AD,AR | 99.89 | 14 of 14 |
ACP5 | Immunodeficiency, Autoimmunity, Spondyloenchondrodysplasia |
AR | 100 | 27 of 28 |
ACTA2 | Aortic Aneurysm, Moyamoya Disease, Multisystemic Smooth Muscle Dysfunction Syndrome, Thoracic Aortic Aneurysm, Aortic Dissection |
AD | 100 | 88 of 88 |
ACTB | Baraitser– Winter Syndrome, Dystonia, Becker Nevus Syndrome, Developmental Malformations, Deafness |
AD | 100 | 40 of 40 |
ACTG1 | Baraitser– Winter Syndrome, Deafness |
AD | 98.59 | 55 of 55 |
ADAR | Aicardi- Goutieres Syndrome, Dyschromatosis Symmetrica, Bilateral Striatal Necrosis |
AD,AR | 99.93 | 252 of 252 |
ADGRG1 | Polymicrogyria | AR | 100 | – |
ADNP | Helsmoortel– Van Der- Aa Syndrome, Adnp Syndrome |
AD | 99.91 | 90 of 90 |
AHCY | Hypermethioninemia, Psychomotor Delay, S-Adenosylhomocysteine Hydrolase Deficiency |
AR | 100 | 11 of 11 |
AHI1 | Joubert Syndrome, Joubert Syndrome, Retinitis Pigmentosa |
AR | 96.79 | 85 of 97 |
AKT3 | Megalencephaly, Polymicrogyria, Polydactyly, Hydrocephalus |
AD | 99.9 | 9 of 11 |
ALDH7A1 | Epilepsy | AR | 99.98 | 131 of 134 |
AMPD2 | Pontocerebellar Hypoplasia, Spastic Paraplegia |
AR | 99.99 | 24 of 24 |
ANKLE2 | Microcephaly | AR | 96.08 | 4 of 4 |
ANKRD11 | Kbg Syndrome, 16q24.3 Microdeletion Syndrome |
AD | 99.6 | 119 of 124 |
ANTXR1 | Gapo Syndrome, Hemangioma |
AD,AR | 100 | 19 of 19 |
AP1S2 | Mental Retardation, Fried Syndrome, Dandy- Walker Malformation, Basal Ganglia Disease, Seizures, Hypotonia, Facial Dysmorphism |
X,XR,G | 84.15 | – |
AP4B1 | Spastic Paraplegia, Intellectual Disability |
AR | 99.64 | 22 of 22 |
AP4E1 | Spastic Paraplegia, Stuttering, Intellectual Disability |
AD,AR | 99.94 | 17 of 17 |
AP4M1 | Spastic Paraplegia, Intellectual Disability |
AR | 100 | 18 of 18 |
APC2 | Cortical Dysplasia, Sotos Syndrome |
AR | 94.97 | 11 of 11 |
ARHGAP31 | Adams- Oliver Syndrome |
AD | 100 | 6 of 6 |
ARID1A | Coffin- Siris Syndrome |
AD | 95.32 | 40 of 42 |
ARID1B | Coffin- Siris Syndrome, 6q25 Microdeletion Syndrome |
AD | 93.87 | 226 of 238 |
ARID2 | Coffin-Siris Syndrome |
AD | 99.97 | 17 of 17 |
ARMC9 | Joubert Syndrome |
AR | 99.95 | 10 of 10 |
ARX | Corpus Callosum Agenesis, Epileptic Encephalopathy, Mental Retardation, Partington Syndrome, West Syndrome, Lissencephaly, Abnormal Genitalia, Spasticity |
X,XR,G | 81.92 | – |
ASNS | Asparagine Synthetase Deficiency |
AR | 99.98 | 37 of 37 |
ASPM | Microcephaly | AR | 99.74 | 221 of 222 |
ASXL1 | Bohring– Opitz Syndrome, Myelodysplastic Syndrome, Systemic Mastocytosis, Hematologic Neoplasm |
AD | 99.96 | 41 of 41 |
ASXL2 | Shashi– Pena Syndrome |
AD | 99.75 | 6 of 6 |
ATP1A1 | Charcot-Marie- Tooth Disease, Hypomagnesemia, Seizures, Mental Retardation |
AD | 100 | 16 of 16 |
ATP6 | Leber Optic Atrophy, Neuropathy, Ataxia, Retinitis Pigmentosa, Bilateral Striatal Necrosis, Leigh Syndrome, Spastic Paraplegia, Narp Syndrome |
MI | – | – |
ATP6AP2 | Congenital Disorder Of Glycosylation, Mental Retardation, Epilepsy, Parkinson Disease, Spasticity |
X,XR,G | 100 | – |
ATP6V0A2 | Cutis Laxa, Wrinkly Skin Syndrome |
AR | 99.99 | 55 of 55 |
ATP6V1A | Cutis Laxa, Epileptic Encephalopathy |
AD,AR | 99.98 | 9 of 9 |
ATP6V1E1 | Cutis Laxa |
AR | 100 | 2 of 2 |
ATXN1 | Spinocerebellar Ataxia |
AD | 99.93 | 2 of 2 |
ATXN2 | Parkinson Disease, Spinocerebellar Ataxia, Amyotrophic Lateral Sclerosis |
AD | 91.78 | 9 of 10 |
ATXN3 | Machado- Joseph Disease |
AD | 99.94 | – |
B3GALNT2 | Muscular Dystrophy- Dystroglycanopathy, Intellectual Disability, Muscle-Eye- Brain Disease, Walker- Warburg Syndrome |
AR | 97.14 | 17 of 17 |
B3GLCT | Peters-Plus Syndrome |
AR | 99.96 | – |
B4GALT1 | Congenital Disorder Of Glycosylation |
AR | 99.97 | 3 of 3 |
B4GAT1 | Muscular Dystrophy- Dystroglycanopathy, Walker-Warburg Syndrome |
AR | – | – |
B9D1 | Joubert Syndrome, Meckel Syndrome |
AR | 90.23 | 11 of 11 |
B9D2 | Meckel Syndrome |
AR | 84.81 | 4 of 5 |
BGN | Meester- Loeys Syndrome, Spondyloepimetaphyseal Dysplasia |
X,XR,G | 99.87 | – |
BICD2 | Spinal Muscular Atrophy |
AD | 99.94 | 39 of 39 |
BMP2 | Brachydactyly, Hemochromatosis, Short Stature, Facial Dysmorphism, Skeletal And Cardiac Anomalies, 20p12.3 Microdeletion Syndrome |
AD,AR | 99.48 | 12 of 12 |
BMP4 | Microphthalmia, Cleft Lip/Palate, Brain And Digit Anomalies |
AD,MU,P | 100 | 38 of 42 |
BRCA1 | Breast And Ovarian Cancer, Fanconi Anemia, Pancreatic Carcinoma, Peritoneal Carcinoma |
AD,AR,MU | 98.97 | 2783 of 2894 |
BRCA2 | Fanconi Anemia, Wilms Tumor, Multiple Types |
AD,AR,MU | 98.51 | 3343 of 3451 |
BRF1 | Cerebellofaciodental Syndrome |
AR | 99.9 | 17 of 17 |
BRIP1 | Fanconi Anemia, Breast And Ovarian Cancer |
AD,AR | 94.97 | 235 of 237 |
BUB1 | Colorectal Cancer, Mosaic Variegated Aneuploidy Syndrome |
AD | 99.76 | 18 of 19 |
BUB1B | Colorectal Cancer, Mosaic Variegated Aneuploidy Syndrome |
AD,AR | 99.84 | 30 of 31 |
BUB3 | Mosaic Variegated Aneuploidy Syndrome |
– | 99.98 | 6 of 6 |
C12ORF57 | Craniofacial Dysmorphism, Ocular Coloboma, Absent Corpus Callosum, Aortic Dilatation, Temtamy Syndrome |
AR | – | – |
C2CD3 | Orofaciodigital Syndrome |
AR | 97.25 | 18 of 18 |
CASK | Anemia, Fg Syndrome, Mental Retardation, Microcephaly, Pontine And Cerebellar Hypoplasia, Epileptic Encephalopathy |
X,XR,XD,G | 99.98 | – |
CC2D2A | Coach Syndrome, Joubert Syndrome, Meckel Syndrome |
AR | 99.43 | 98 of 100 |
CCDC103 | Ciliary Dyskinesia |
AR | 99.92 | 6 of 6 |
CCDC174 | Hypotonia, Psychomotor Retardation |
AR | 99.89 | 1 of 1 |
CCDC22 | Ritscher- Schinzel Syndrome, 3c Syndrome |
X,XR,G | 99.94 | – |
CCDC39 | Ciliary Dyskinesia |
AR | 99.56 | 48 of 52 |
CCDC40 | Ciliary Dyskinesia |
AR | 98 | 50 of 50 |
CCDC65 | Ciliary Dyskinesia |
AR | 99.98 | 3 of 3 |
CCDC88A | Peho- Like Syndrome |
AR | 91.9 | 3 of 4 |
CCDC88C | Hydrocephalus, Spinocerebellar Ataxia |
AD,AR | 99.44 | 13 of 14 |
CCND2 | Megalencephaly, Polymicrogyria, Polydactyly, Hydrocephalus |
AD | 99.97 | 9 of 9 |
CCNO | Ciliary Dyskinesia |
AR | 99.94 | 12 of 12 |
CDC42 | Takenouchi- Kosaki Syndrome, Macrothrombocytopenia, Lymphedema, Developmental Delay, Facial Dysmorphism, Camptodactyly |
AD | 99.97 | 10 of 10 |
CDK5RAP2 | Microcephaly | AR | 100 | 32 of 32 |
CDK6 | Microcephaly | AR | 100 | 1 of 1 |
CDKN1C | Beckwith- Wiedemann Syndrome, Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasiacongenita, Genital Anomalies, Image Syndrome, Diabetes |
AD | 73.58 | 55 of 76 |
CENPJ | Microcephaly, Seckel Syndrome |
AR | 99.97 | 13 of 13 |
CEP120 | Joubert Syndrome, Short-Rib Thoracic Dysplasia, Polydactyly, Jeune Syndrome |
AR | 99.8 | 9 of 9 |
CEP135 | Microcephaly | AR | 99.48 | 7 of 8 |
CEP152 | Microcephaly, Seckel Syndrome |
AR | 97.73 | 21 of 24 |
CEP290 | Bardet-Biedl Syndrome, Joubert Syndrome, Leber Congenital Amaurosis, Meckel Syndrome, Senior- Loken Syndrome |
AR | 96.47 | 293 of 327 |
CEP55 | Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, Hydranencephaly, Meckel Syndrome |
AR | 99.22 | 3 of 3 |
CEP57 | Mosaic Variegated Aneuploidy Syndrome |
AR | 99.64 | 6 of 6 |
CEP63 | Seckel Syndrome, Microcephaly |
AR | 100 | 3 of 3 |
CFAP221 | Primary Ciliary Dyskinesia |
– | 89.78 | – |
CFAP298 | Ciliary Dyskinesia |
AR | – | – |
CFAP300 | Ciliary Dyskinesia |
AR | – | – |
CHD3 | Snijders Blok-Campeau Syndrome |
AD | 97.93 | 30 of 30 |
CHD4 | Sifrim– Hitz-Weiss Syndrome |
AD | 99.65 | 34 of 34 |
CHD7 | Charge Syndrome, Hypogonadotropic Hypogonadism, Kallmann Syndrome, Omenn Syndrome |
AD | 96.25 | 823 of 896 |
CHST14 | Ehlers-Danlos Syndrome |
AR | 97.7 | 21 of 22 |
CILK1 | Endocrine- Cerebroosteodysplasia, Epilepsy |
AD,AR | 100 | – |
CIT | Microcephaly | AR | 99.98 | 17 of 17 |
CLCN4 | Mental Retardation |
X,XR,XD,G | 99.69 | – |
CLP1 | Pontocerebellar Hypoplasia |
AR | 99.89 | 2 of 2 |
CNNM2 | Hypomagnesemia, Mental Retardation, Seizures, Normocalciuria, Normocalcemia |
AD,AR | 99.98 | 9 of 9 |
COG5 | Congenital Disorder Of Glycosylation |
AR | 100 | 19 of 19 |
COG6 | Congenital Disorder Of Glycosylation, Shaheen Syndrome, Hypohidrosis, Enamel Hypoplasia, Palmoplantar Keratoderma, Intellectual Disability |
AR | 100 | 13 of 13 |
COG8 | Congenital Disorder Of Glycosylation |
AR | 100 | 8 of 8 |
COL18A1 | Glaucoma, Knobloch Syndrome |
AD,AR | 99.76 | – |
COL3A1 | Ehlers-Danlos Syndrome, Polymicrogyria, Acrogeria, Aneurysm |
AD,AR | 100 | 676 of 676 |
COL4A1 | Angiopathy, Nephropathy, Aneurysms, Muscle Cramps, Microangiopathy, Leukoencephalopathy, Porencephaly, Hanac Syndrome, Walker-Warburg Syndrome |
AD | 99.99 | 173 of 173 |
COL4A2 | Porencephaly | AD | 99.93 | 28 of 28 |
COPB2 | Microcephaly | AR | 99.64 | 4 of 4 |
CPLX1 | Epileptic Encephalopathy, Wolf-Hirschhorn Syndrome |
AD,AR | 99.81 | 3 of 3 |
CPT2 | Carnitine Palmitoyltransferase Ii Deficiency, Encephalopathy |
AD,AR | 99.99 | 116 of 116 |
CRB2 | Ventriculomegaly, Cystic Kidney Disease, Focal Segmental Glomerulosclerosis |
AR | 99.5 | 26 of 29 |
CRPPA | Muscular Dystrophy- Dystroglycanopathy, Limb Girdle Muscular Dystrophy, Intellectual Disability, Walker- Warburg Syndrome |
AR | 97.69 | – |
CSF1R | Brain Abnormalities, Neurodegeneration, Dysosteosclerosis, Gliosis |
AD,AR | 100 | 122 of 124 |
CSGALNACT1 | Skeletal Dysplasia |
AR | 100 | 4 of 5 |
CSPP1 | Joubert Syndrome, Jeune Asphyxiating Thoracic Dystrophy, Meckel Syndrome |
AR | 98.32 | 29 of 30 |
CTBP1 | Hypotonia, Ataxia, Developmental Delay, Tooth Enamel Defect, Wolf-Hirschhorn Syndrome |
AD | 98.45 | 1 of 1 |
CTCF | Mental Retardation, Feeding Difficulties, Developmental Delay, Microcephaly |
AD | 96.6 | 39 of 41 |
CTDP1 | Congenital Cataracts, Facial Dysmorphism, Neuropathy |
AR | 97.52 | 0 of 1 |
CTNNB1 | Colorectal Cancer, Exudative Vitreoretinopathy, Hepatocellular Carcinoma, Medulloblastoma, Mental Retardation, Pilomatrixoma, Craniopharyngioma, Desmoid Tumor, Spastic Diplegia |
AD,AR | 100 | 63 of 63 |
CUL4B | Mental Retardation, Short Stature, Small Testes, Musclewasting, Tremor |
X,XR,G | 99.77 | – |
CYFIP2 | Epileptic Encephalopathy |
AD | 100 | 8 of 8 |
D2HGDH | D-2- Hydroxyglutaric Aciduria |
AR | 100 | 42 of 42 |
DAG1 | Muscular Dystrophy- Dystroglycanopathy, Limb-Girdle Muscular Dystrophy, Muscle-Eye- Brain Disease, Bilateral Multicystic Leucodystrophy, Walker-Warburg Syndrome |
AR | 99.98 | 9 of 9 |
DCHS1 | Mitral Valve Prolapse, Van Maldergem Syndrome, Cerebrofacioarticular Syndrome |
AD,AR | 99.69 | 30 of 30 |
DCX | Lissencephaly | X,G | 100 | – |
DDX3X | Intellectual Developmental Disorder, Hypotonia |
X,XR,XD,G | 99.03 | – |
DEAF1 | Dyskinesia, Seizures, Intellectual Developmental Disorder, Mental Retardation, Epilepsy, Extrapyramidal Syndrome, Smith-Magenis Syndrome |
AD,AR | 93.55 | 42 of 42 |
DENND5A | Epileptic Encephalopathy |
AR | 100 | 9 of 9 |
DHCR24 | Desmosterolosis | AR | 100 | 10 of 10 |
DHCR7 | Smith- Lemli–Opitz Syndrome |
AR | 100 | 217 of 217 |
DHX30 | Neurodevelopmental Disorder, Absent Language |
AD | 99.98 | 6 of 6 |
DISC1 | Microcephaly, Polymicrogyria, Corpus Callosum Agenesis |
– | 97.88 | 16 of 17 |
DKC1 | Dyskeratosis Congenita, Hoyeraal- Hreidarsson Syndrome |
X,XR,G | 100 | – |
DLL1 | Neurodevelopmental Disorder, Seizures, Holoprosencephaly |
AD | 99.83 | 15 of 15 |
DMPK | Dystrophia Myotonica, Steinert Myotonic Dystrophy |
AD | 99.83 | 3 of 3 |
DNAAF1 | Ciliary Dyskinesia |
AR | 99.55 | 36 of 37 |
DNAAF2 | Ciliary Dyskinesia |
AR | 97.45 | 7 of 8 |
DNAAF3 | Ciliary Dyskinesia |
AR | 98.95 | 13 of 14 |
DNAAF4 | Ciliary Dyskinesia |
AD,AR | 99.27 | – |
DNAAF5 | Ciliary Dyskinesia |
AR | 89.27 | – |
DNAAF6 | Ciliary Dyskinesia |
X,XR,G | 99.63 | – |
DNAH1 | Ciliary Dyskinesia, Spermatogenic Failure |
AR | 100 | 58 of 58 |
DNAH11 | Ciliary Dyskinesia |
AR | 99.27 | 159 of 169 |
DNAH5 | Ciliary Dyskinesia |
AR | 100 | 277 of 278 |
DNAH9 | Ciliary Dyskinesia |
AR | 98.86 | 19 of 19 |
DNAI1 | Kartagener Syndrome, Ciliary Dyskinesia |
AR | 96.91 | 43 of 43 |
DNAI2 | Ciliary Dyskinesia |
AR | 98.89 | 8 of 8 |
DNAJB13 | Ciliary Dyskinesia |
AR | 99.94 | 3 of 3 |
DNAL1 | Ciliary Dyskinesia |
AR | 99.43 | 5 of 5 |
DNMT1 | Cerebellar Ataxia, Deafness, Narcolepsy, Neuropathy |
AD | 97.87 | 30 of 30 |
DNMT3A | Heyn-Sproul- Jackson Syndrome, Leukemia, Tatton- Brown- Rahman Syndrome, Sporadic Pheochromocytoma, Secreting Paraganglioma, Tall Stature, Intellectual Disability, Facial Dysmorphism |
AD | 99.95 | 67 of 68 |
DOK7 | Fetal Akinesia Deformation Sequence, Myasthenia, Limb-Girdle Muscular Dystrophy |
AR | 99.88 | 72 of 72 |
DPF2 | Coffin-Siris Syndrome |
AD | 99.99 | 10 of 10 |
DPH1 | Developmental Delay, Short Stature, Craniofacial Dysplasia, Intellectual Disability |
AR | 100 | 8 of 8 |
DRC1 | Ciliary Dyskinesia |
AR | 100 | 9 of 9 |
DSE | Ehlers- Danlos Syndrome |
AR | 99.94 | 3 of 3 |
DYNC2H1 | Short-Rib Thoracic Dysplasia, Polydactyly, Jeune Syndrome |
AR,MU,D | 99.78 | 214 of 221 |
DYNC2I1 | Short-Rib Thoracic Dysplasia, Polydactyly, Jeune Syndrome |
AR | 97.76 | 14 of 14 |
DYNC2I2 | Short-Rib Thoracic Dysplasia, Polydactyly, Jeune Syndrome, |
AR | 99.54 | 23 of 23 |
DYRK1A | Mental Retardation, Intellectual Disability |
AD | 99.85 | 78 of 81 |
EBP | Chondrodysplasia Punctata, Mend Syndrome |
X,XR,XD,G | 100 | – |
EGF | Hypomagnesemia, Normocalciuria, Normocalcemia |
AR | 99.98 | 9 of 9 |
EHMT1 | Kleefstra Syndrome |
AD | 98.58 | 58 of 75 |
EIF2S3 | Mehmo Syndrome |
X,XR,G | 98.64 | – |
EMG1 | Bowen- Conradi Syndrome |
AR | 99.91 | 1 of 1 |
EML1 | Band Heterotopia |
AR | 98.88 | 7 of 7 |
EOMES | Microcephaly, Polymicrogyria, Corpus Callosum Agenesis |
– | 98.82 | – |
ERCC2 | Cerebrooculofacioskeletal Syndrome, Trichothiodystrophy, Xeroderma Pigmentosum |
AR | 100 | 102 of 102 |
ERCC3 | Trichothiodystrophy, Xeroderma Pigmentosum |
AR | 99.98 | 24 of 24 |
ERCC4 | Fanconi Anemia, Xeroderma Pigmentosum, Xfe Progeroid Syndrome, Cockayne Syndrome |
AR | 99.68 | 69 of 72 |
EVC | Ellis-Van Creveld Syndrome, Weyers Acrofacial Dysostosis, Acrofacial Dysostosis |
AD,AR | 94.04 | 68 of 73 |
EVC2 | Ellis-Van Creveld Syndrome, Weyers Acrofacial Dysostosis |
AD,AR | 99.98 | 75 of 75 |
EXT1 | Chondrosarcoma, Exostoses, Multiple Osteochondromas, Trichorhinophalangeal Syndrome |
AD,AR | 99.97 | 518 of 525 |
EXTL3 | Immunoskeletal Dysplasia, Neurodevelopmental Abnormalities, Immunodeficiency |
AR | 99.99 | 10 of 10 |
EZH2 | Weaver Syndrome |
AD | 99.82 | 40 of 41 |
FANCA | Fanconi Anemia |
AR | 95.17 | 497 of 502 |
FANCB | Fanconi Anemia, VACTERL, Hydrocephalus |
X,XR,G | 95.53 | – |
FANCC | Fanconi Anemia |
AR | 100 | 75 of 75 |
FANCD2 | Fanconi Anemia |
AR | 100 | 62 of 63 |
FANCE | Fanconi Anemia |
AR | 97 | 17 of 18 |
FANCF | Fanconi Anemia |
AR | 99.31 | 17 of 18 |
FANCG | Fanconi Anemia |
– | 100 | 94 of 94 |
FANCI | Fanconi Anemia |
AR | 100 | 53 of 54 |
FANCL | Fanconi Anemia |
AR | 100 | 25 of 26 |
FANCM | Ovarian Failure, Spermatogenic Failure, Fanconi Anemia, Male Infertility |
AR | 99.73 | 59 of 61 |
FAR1 | Peroxisomal Fatty Acyl-Coa Reductase 1 Disorder |
AR | 98.77 | 4 of 4 |
FARS2 | Combined Oxidative Phosphorylation Deficiency, Spastic Paraplegia |
AR | 99.98 | 23 of 23 |
FAT4 | Hennekam Lymphangiectasia- Lymphedema Syndrome, Van Maldergem Syndrome, Cerebrofacioarticular Syndrome |
AR | 99.8 | 41 of 41 |
FBN1 | Acromicric Dysplasia, Ectopia Lentis, Geleophysic Dysplasia, Marfan Syndrome, Mass Syndrome, Stiff Skin Syndrome, Weill-Marchesani Syndrome, Familial Thoracic Aortic Aneurysm, Aortic Dissection, Glaucoma, Microspherophakia, Shprintzen– Goldberg Syndrome |
AD | 100 | 2836 of 2845 |
FBP1 | Fructose-1,6- Bisphosphatase Deficiency |
AR | 100 | 47 of 49 |
FBXW11 | Neurodevelopmental, Jaw, Eye, And Digital Syndrome, Intellectual Disability |
AD | 99.89 | 10 of 10 |
FGFR1 | Encephalocraniocutaneous Lipomatosis, Hartsfield Syndrome, Jackson-Weiss Syndrome, Kallmann Syndrome, Osteoglophonic Dysplasia, Pfeiffer Syndrome, Trigonocephaly, Holoprosencephaly, Hypogonadotropic Hypogonadism, Oligodontia |
AD | 100 | 279 of 280 |
FGFR2 | Antley-Bixler Syndrome, Apert Syndrome, Bent Bone Dysplasia Syndrome, Crouzon Syndrome, Scaphocephaly Syndrome, Gastric Cancer, Jackson-Weiss Syndrome, Lacrimoauri- culodentodigital Syndrome, Saethre-Chotzen Syndrome, Cutis Gyrate, Acanthosis Nigricans, Craniosynostosis, Pfeiffer Syndrome |
AD | 98 | 140 of 143 |
FGFR3 | Achondroplasia, Bladder Cancer, Camptodactyly, Cervical Cancer, Colorectal Cancer, Crouzon Syndrome, Acanthosis Nigricans, Epidermal Nevus, Hypochondroplasia, Lacrimoauri- culodentodigital Syndrome, Muenke Syndrome, Testicular Tumor, Thanatophoric Dysplasia, Tall Stature, Scoliosis , Hearing Loss, Brachycephaly, Plagiocephaly, Saethre-Chotzen Syndrome |
AD,AR | 99.89 | 77 of 78 |
FGFRL1 | Wolf-Hirschhorn Syndrome |
AD | 99.94 | 1 of 1 |
FIG4 | Amyotrophic Lateral Sclerosis, Charcot- Marie-Tooth Disease, Cleidocranial Dysplasia, Micrognathia, Absent Thumbs, Polymicrogyria, Yunis-Varon Syndrome |
AD,AR | 99.92 | 72 of 72 |
FKRP | Limb Girdle Muscular Dystrophy, Muscular Dystrophy- Dystroglycanopathy, Muscle-Eye-Brain Disease, Walker- Warburg Syndrome |
AR | 99.9 | 157 of 157 |
FKTN | Cardiomyopathy, Muscular Dystrophy- Dystroglycanopathy, Limb Girdle Muscular Dystrophy, Muscle-Eye-Brain Disease, Walker- Warburg Syndrome |
AR | 98 | 54 of 56 |
FLI1 | Bleeding Disorder, Jacobsen Syndrome, Paris-Trousseau Thrombocytopenia, Neuroectodermal Tumor |
AD,AR | 100 | 7 of 7 |
FLII | Smith- Magenis Syndrome |
– | 99.98 | 3 of 3 |
FLVCR2 | Proliferative Vasculopathy, Hydranencephaly- Hydrocephaly Syndrome |
AR | 99.97 | 16 of 16 |
FOXF1 | Alveolar Capillary Dysplasia, Misalignment Of Pulmonary Veins |
AD | 95.93 | 74 of 96 |
FOXJ1 | Ciliary Dyskinesia |
AD | 99.69 | 5 of 5 |
FOXP3 | Immunodysregulation, Polyendocrinopathy, Enteropathy |
X,XR,G | 99.86 | – |
FOXRED1 | Mitochondrial Complex I Deficiency, Leigh Syndrome, Leukodystrophy |
AR | 100 | 13 of 13 |
FTO | Body Mass Index Quantitative Trait Locus, Developmental Delay |
AR | 99.91 | 8 of 8 |
GABBR2 | Epileptic Encephalopathy, Neurodevelopmental Disorder, Rett Syndrome |
AD | 95.98 | 7 of 7 |
GABRD | 1p36 Deletion Syndrome, Febrile Seizures, Myoclonic Epilepsy |
AD | 95.23 | 3 of 3 |
GAS2L2 | Ciliary Dyskinesia |
AR | 89 | 4 of 5 |
GAS8 | Ciliary Dyskinesia |
AR | 99.98 | 6 of 6 |
GBA | Dementia, Gaucher Disease, Parkinson Disease, Ophthalmoplegia, Cardiovascular Calcification |
AD,AR | 100 | 469 of 471 |
GCDH | Glutaric Acidemia, Glutaryl-Coa Dehydrogenase Deficiency |
AR | 88.74 | 254 of 254 |
GFM2 | Combined Oxidative Phosphorylation Deficiency |
AR | 99.35 | 5 of 7 |
GLB1 | Gangliosidosis, Morquio Syndrome |
AR | 100 | 242 of 243 |
GLI3 | Greig Cephalopolysyndactyly Syndrome, Hypothalamic Hamartomascongenital Hypothalamic Hamartoma Syndrome, Polydactyly, Acrocallosal Syndrome, Pallister-Hall Syndrome, Tibial Hemimelia |
AD,AR | 100 | 231 of 231 |
GLUL | Glutamine Deficiency |
AR | 100 | 4 of 4 |
GMPPB | Muscular Dystrophy- Dystroglycanopathy, Myasthenic Syndromes, Glycosylation Defect, Limb- Girdle Muscular Dystrophy, Muscle-Eye- Brain Disease |
AR | 99.95 | 53 of 53 |
GNAO1 | Epileptic Encephalopathy, Neurodevelopmental Disorder |
AD | 100 | 47 of 47 |
GPC3 | Simpson-Golabi– Behmel Syndrome, Wilms Tumor, Nephroblastoma |
AD,X,XR,G | 99.84 | – |
GPC4 | Keipert Syndrome, Simpson-Golabi– Behmel Syndrome, Wilms Tumor |
AD,X,XR,G | 98.43 | – |
GPSM2 | Chudley- Mccullough Syndrome |
AR | 100 | 13 of 13 |
GRM1 | Spinocerebellar Ataxia |
AD,AR | 99.88 | 20 of 21 |
GRN | Ceroid Lipofuscinosis, Frontotemporal Lobar Degeneration, Frontotemporal Dementia, Semantic Dementia |
AD,AR | 100 | 220 of 229 |
GTF2E2 | Trichothiodystrophy | AR | 99.98 | 2 of 2 |
GTF2H5 | Trichothiodystrophy | AR | 100 | 8 of 8 |
H19-ICR | Beckwith- Wiedemann Syndrome, Multiple Cancer Types, Silver- Russell Syndrome |
AD | – | – |
HDAC8 | Cornelia De Lange Syndrome, Wilson- Turner Syndrome |
X,XD,G | 99.78 | – |
HECW2 | Neurodevelopmental Disorder, Hypotonia, Seizures |
AD | 99.85 | 13 of 13 |
HEPACAM | Megalencephalic Leukoencephalopathy, Subcortical Cysts, Mental Retardation |
AD,AR | 97.87 | 30 of 30 |
HERC1 | Macrocephaly, Dysmorphic Facies, Psychomotor Retardation, Megalencephaly, Kyphoscoliosis |
AR | 99.96 | 11 of 11 |
HERC2 | Mental Retardation, Prader-Willi Syndrome |
AD,AR | 98.91 | 9 of 9 |
HIBCH | 3-Hydroxyisobutyryl- Coa Hydrolase Deficiency, Neurodegeneration |
AR | 96.47 | 27 of 27 |
HK1 | Hemolytic Anemia, Neurodevelopmental Disorder, Visual Defects, Neuropathy, Retinitis Pigmentosa, Charcot-Marie- Tooth Disease |
AD,AR | 100 | 14 of 17 |
HNRNPU | Epileptic Encephalopathy, 1q44 Microdeletion Syndrome |
AD | 99.8 | 36 of 36 |
HRAS | Bladder Cancer, Costello Syndrome, Epidermal Nevus, Schimmelpenning– Feuerstein- Mims Syndrome, Thyroid Cancer |
AD | 100 | 34 of 34 |
HS6ST2 | Paganini- Miozzo Syndrome |
X,XR,G | 98.39 | – |
HSD17B4 | D-Bifunctional Protein Deficiency, Perrault Syndrome |
AR | 99.52 | 85 of 85 |
HTRA2 | 3-Methylglutaconic Aciduria, Parkinson Disease |
AD,AR | 99.81 | 18 of 18 |
HTT | Huntington Disease, Lopes-Maciel– Rodan Syndrome |
AD,AR | 99 | – |
HYDIN | Ciliary Dyskinesia |
AR | 81.7 | 45 of 63 |
HYLS1 | Hydrolethalus Syndrome, Joubert Syndrome |
AR | 100 | 2 of 2 |
IFIH1 | Aicardi- Goutieres Syndrome, Singleton– Merten Syndrome |
AD | 99.62 | 26 of 27 |
IFT172 | Retinitis Pigmentosa, Short-Rib Thoracic Dysplasia, Polydactyly, Bardet-Biedl Syndrome, Jeune Syndrome |
AR | 100 | 37 of 37 |
IFT43 | Cranioectodermal Dysplasia, Retinitis Pigmentosa, Short-Rib Thoracic Dysplasia, Polydactyly |
AR | 100 | 6 of 6 |
IFT80 | Asphyxiating Thoracic Dystrophy, Jeune Syndrome, Short Rib- Polydactyly Syndrome |
AR | 99.96 | 16 of 16 |
IGF2 | Beckwith- Wiedemann Syndrome, Growth Restriction, Silver-Russell Syndrome, Wilms Tumor, Hemihyperplasia |
AD,X,XR,G | 100 | 9 of 9 |
INPP5E | Joubert Syndrome, Mental Retardation, Obesity, Retinal Dystrophy, Hepatic Defect |
AR | 99.89 | 56 of 56 |
INTU | Orofaciodigital Syndrome, Short-Rib Throacic Dysplasia, Polydactyly |
AR | 99.7 | 9 of 9 |
IPW | Prader-Willi Syndrome |
AD | – | – |
IQSEC2 | Mental Retardation, Microduplication Xp11.22p11.23 Syndrome, Microcephaly, Smith-Magenis Syndrome |
X,XR,XD,G | 99.73 | – |
ISCA1 | Multiple Mitochondrial Dysfunctions Syndrome |
AR | 99.86 | 2 of 2 |
JAM2 | Basal Ganglia Calcification |
AR | 99.98 | – |
JAM3 | Hemorrhagic Destruction Of The Brain, Subependymal Calcification, Cataracts |
AR | 100 | 4 of 4 |
KANK1 | Cerebral Palsy |
AD,ADWMI | 99.91 | 6 of 6 |
KANSL1 | Koolen-De Vries Syndrome |
AD | 96.03 | 22 of 27 |
KAT8 | Li-Ghorgani– Weisz-Hubshman Syndrome |
AD | 99.97 | 1 of 1 |
KATNB1 | Lissencephaly, Microcephaly |
AR | 100 | 10 of 10 |
KCNAB2 | 1p36 Deletion Syndrome |
– | 79 | 3 of 3 |
KCNK4 | Facial Dysmorphism, Hypertrichosis, Epilepsy, Developmental Delay, Gingival Overgrowth Syndrome |
AD | 94.93 | 2 of 2 |
KCNQ1 | Atrial Fibrillation, Beckwith- Wiedemann Syndrome, Jervell And Lange-Nielsen Syndrome, Long Qt Syndrome, Short Qt Syndrome, Romano-Ward Syndrome |
AD,AR | 93.23 | 600 of 624 |
KCNQ1OT1 | Beckwith- Wiedemann Syndrome, Hemihyperplasia |
AD | – | – |
KDM6A | Kabuki Syndrome |
AD,X,XD,G | 99.98 | – |
KIAA0586 | Joubert Syndrome, Short-Rib Thoracic Dysplasia, Polydactyly, Joubert Syndrome |
AR | 99.84 | 31 of 32 |
KIAA0753 | Orofaciodigital Syndrome |
AR | 97.73 | 7 of 7 |
KIAA1109 | Alkuraya- Kucinskas Syndrome |
AR | 99.95 | 21 of 21 |
KIDINS220 | Spastic Paraplegia Intellectual Disability, Nystagmus, Obesity |
AD | 99.83 | 17 of 17 |
KIF14 | Meckel Syndrome, Microcephaly |
AR | 99.84 | 18 of 18 |
KIF1A | Mental Retardation, Neuropathy, Spastic Paraplegia, Peho Syndrome |
AD,AR | 100 | 76 of 76 |
KIF7 | Acrocallosal Syndrome, Hydrolethalus Syndrome, Macrocephaly, Multiple Epiphyseal Dysplasia, Distinctive Facies, Orofaciodigital Syndrome |
AR | 94.91 | 47 of 50 |
KIFBP | Goldberg- Shprintzen Syndrome |
AR | 99.27 | – |
KLHL15 | Mental Retardation |
X,XR,G | 99.61 | – |
KLHL7 | Crisponi Sweating Syndrome, Retinitis Pigmentosa, Bohring-Opitz Syndrome |
AD,AR | 98.69 | 19 of 19 |
KMT2A | Hairy Elbows, Short Stature, Facial Dysmorphism, Developmental Delay, Cornelia De Lange Syndrome, Wiedemann- Steiner Syndrome |
AD | 98.14 | 144 of 149 |
KMT2D | Kabuki Syndrome |
AD | 99.71 | 839 of 847 |
KNL1 | Microcephaly | AR | 98.91 | – |
KNSTRN | Immunodeficiency, Faciooculoskeletal Anomalies |
– | 99.98 | – |
KRAS | Aplasia Cutis Congenita, Arteriovenous Malformation Of The Brain, Cardiofaciocutaneous Syndrome, Noonan Syndrome, Autoimmune Lymphoproliferative Syndrome, Schimmelpenning -Feuerstein- Mims Syndrome, Encephalo- craniocutaneous Lipomatosis, Linear Nevus Sebaceus Syndrome, Lynch Syndrome, Toriello-Lacassie– Droste Syndrome |
AD | 100 | 38 of 38 |
L1CAM | Corpus Callosum Agenesis, Hydrocephalus, Stenosis Of Aqueduct Of Sylvius, Masa Syndrome |
X,XR,G | 100 | – |
LAMA1 | Poretti- Boltshauser Syndrome, Ataxia, Intellectual Disability |
AR | 100 | 43 of 43 |
LARGE1 | Muscular Dystrophy- Dystroglycanopathy, Muscle-Eye-Brain Disease, Walker- Warburg Syndrome |
AR | 100 | – |
LETM1 | Wolf-Hirschhorn Syndrome |
AD | 98.2 | 2 of 2 |
LMNB2 | Barraquer– Simons Syndrome, Epilepsy, Lipodystrophy |
AD,AR | 95.03 | 5 of 5 |
LONP1 | Codas Syndrome |
AR | 99.84 | 21 of 21 |
LRRC56 | Ciliary Dyskinesia |
AR | 99.77 | 5 of 5 |
LRRC6 | Ciliary Dyskinesia |
AR | 99.88 | 21 of 21 |
MAB21L1 | Cerebellar, Ocular, Craniofacial, And Genital Syndrome |
AR | 99.97 | 6 of 6 |
MAD2L2 | Fanconi Anemia |
AR | 99.91 | 1 of 1 |
MAF | Ayme-Gripp Syndrome, Cataract |
AD | 75.14 | 23 of 23 |
MAG | Spastic Paraplegia |
AR | 99.97 | 7 of 7 |
MAGEL2 | Prader-Willi Syndrome |
AD | 99.99 | 43 of 48 |
MAST1 | Mega-Corpus- Callosum Syndrome, Cerebellar Hypoplasia, Cortical Malformations |
AD | 98.92 | 26 of 26 |
MBTPS2 | Ichthyosis Follicularis, Atrichia, Photophobia Syndrome, Keratosis Follicularis Spinulosa Decalvans, Osteogenesis Imperfecta, Palmoplantar Keratoderma, Bresek Syndrome, Alopecia, Periorificial Keratotic Plaques |
X,XR,G | 100 | – |
MCIDAS | Ciliary Dyskinesia |
AR | 99.92 | 4 of 4 |
MCPH1 | Microcephaly | AR | 99.51 | 18 of 19 |
MED12 | Lujan-Fryns Syndrome, Ohdo Syndrome, Opitz-Kaveggia Syndrome, Blepharophimosis, Intellectual Disability, Fg Syndrome |
X,XR,G | 100 | – |
MED25 | Basel- Vanagaite– Smirin-Yosef Syndrome, Charcot-Marie- Tooth Disease, Congenital Cataract, Microcephaly, Nevus Flammeus Simplex, Intellectual Disability |
AR | 100 | 5 of 5 |
MEF2C | Mental Retardation, Stereotypic Movements, Epilepsy, Cerebral Malformations, 5q14.3 Microdeletion Syndrome |
AD | 99.91 | 43 of 46 |
METTL5 | Intellectual Developmental Disorder, Microcephaly |
AR | 99.9 | 4 of 4 |
MFSD2A | Microcephaly | AR | 97.58 | 6 of 6 |
MKRN3 | Prader-Willi Syndrome, Precocious Puberty |
AD,ADWMI | 99.98 | 39 of 41 |
MKRN3-AS1 | Prader-Willi Syndrome |
AD | – | – |
MKS1 | Bardet-Biedl Syndrome, Joubert Syndrome, Meckel Syndrome |
AR | 99.98 | 49 of 49 |
MOCS1 | Molybdenum Cofactor Deficiency |
AR | 100 | 36 of 37 |
MOCS2 | Molybdenum Cofactor Deficiency |
AR | 100 | 32 of 32 |
MPDZ | Hydrocephalus | AR | 99.44 | 58 of 58 |
MPLKIP | Trichothiodystrophy | AR | 100 | 13 of 13 |
MRE11 | Ataxia- Telangiectasia- Like Disorder Breast And Ovarian Cancer |
AR | 99.95 | – |
MRPS16 | Oxidative Phosphorylation Deficiency |
AR | 100 | 1 of 1 |
MSL3 | Basilicata- Akhtar Syndrome |
X,XD,G | 99.72 | – |
MTHFR | Neural Tube Defects, Schizophrenia, Thrombophiliavenous Thromboembolism, Homocystinuria, Methylene Tetrahydrofolate Reductase Deficiency, Anencephaly, Exencephaly |
AD,AR | 100 | 122 of 122 |
MTHFS | Neurodevelopmental Disorder, Microcephaly, Epilepsy, Hypomyelination |
AR | 100 | 5 of 5 |
MTOR | Focal Cortical Dysplasia Of Taylor, Smith- Kingsmore Syndrome, Macrocephaly, Intellectual Disability, Neurodevelopmental Disorder |
AD | 99.98 | 39 of 39 |
MTRR | Homocystinuria, Megaloblastic Anemia, Neural Tube Defects, Methylcobalamin Deficiency |
AR | 100 | 39 of 40 |
MUSK | Fetal Akinesia Deformation Sequence, Myasthenic Syndrome, Acetylcholinereceptor Deficiency |
AR | 95.58 | 23 of 25 |
MYMK | Carey- Fineman– Ziter Syndrome |
AR | 100 | – |
MYOD1 | Myopathy, Diaphragmatic Defects, Respiratory Insufficiency, Dysmorphic Facies, Fetal Akinesia Deformation Sequence |
AR | 99.97 | 6 of 6 |
MYORG | Basal Ganglia Calcification, Striopallidodentate Calcinosis |
AR | 100 | – |
NAA10 | Microphthalmia, Ogden Syndrome |
X,XR,XD,G | 99.86 | – |
NADK2 | 2,4-Dienoyl-Coa Reductase Deficiency, Progressive Encephalopathy, Leukodystrophy |
AR | 95.37 | 3 of 3 |
NANS | Spondyloepimetaphyseal Dysplasia |
AR | 99.97 | 12 of 12 |
NCAPD3 | Microcephaly | AR | 99.97 | 4 of 5 |
NDE1 | Lissencephaly, Microhydranencephaly, Hydranencephaly |
AR | 86.55 | 12 of 13 |
NDN | Prader-Willi Syndrome |
AD | 97.41 | 2 of 2 |
NDUFA6 | Mitochondrial Complex I Deficiency |
AR | 100 | 9 of 9 |
NDUFAF3 | Mitochondrial Complex I Deficiency, Leigh Syndrome With Cardiomyopathy |
AR | 100 | 9 of 9 |
NDUFB11 | Linear Skin Defects, Microphthalmia, Mitochondrial Complex I Deficiency |
X,XD,G | 97.48 | – |
NDUFB8 | Mitochondrial Complex I Deficiency, Leigh Syndrome, Cardiomyopathy |
AR | 100 | 4 of 4 |
NDUFS2 | Mitochondrial Complex I Deficiency, Leber Optic Neuropathy, Leigh Syndrome, Cardiomyopathy, Leukodystrophy |
AR | 100 | 26 of 26 |
NEK1 | Amyotrophic Lateral Sclerosis, Short Rib- Polydactyly Syndrome, Orofaciodigital Syndrome |
AD,AR,MU,D | 99.83 | 73 of 74 |
NEK10 | Ciliary Dyskinesia |
AR | 99.95 | 3 of 3 |
NEXMIF | Mental Retardation |
X,XR,XD,G | 99.74 | – |
NFIA | Chromosome 1p32-P31 Deletion Syndrome |
AD | 92.5 | 7 of 7 |
NFIX | Marshall-Smith Syndrome, Sotos Syndrome, 19p13.3 Microduplication Syndrome, Malan Overgrowth Syndrome |
AD | 94.42 | 75 of 81 |
NGLY1 | Congenital Disorder Of Glycosylation, Alacrimia- Choreoathetosis- Liver Dysfunction Syndrome |
AR | 99.8 | 28 of 28 |
NID1 | Isolated Dandy-Walker Malformation |
– | 100 | 4 of 4 |
NIPBL | Cornelia De Lange Syndrome |
AD | 99.32 | 409 of 426 |
NME8 | Ciliary Dyskinesia |
AR | 99.99 | 9 of 9 |
NOTCH2NLC | Neuronal Intranuclear Inclusion Disease, Tremor |
AD | – | – |
NPAP1 | Prader- Willi Syndrome |
AD | 99.82 | – |
NPHP3 | Meckel Syndrome, Nephronophthisis, Renal-Hepatic- Pancreatic Dysplasia, Senior-Loken Syndrome |
AR | 99.99 | 84 of 84 |
NRAS | Epidermal Nevus, Giant Pigmented Hairy Nevus, Neurocutaneous Melanosis, Noonan Syndrome, Autoimmune Lymphoproliferative Syndrome, Schimmelpenning– Feuerstein-Mims Syndrome, Multiple Cancer Types |
AD | 100 | 15 of 15 |
NSD1 | Sotos Syndrome, 5q35 Microduplication Syndrome, Weaver Syndrome |
AD | 99.8 | 451 of 459 |
NSD2 | Wolf- Hirschhorn Syndrome |
AD | 99.91 | – |
NUP188 | Sandestig- Stefanova Syndrome |
AR | 100 | 6 of 6 |
NUP88 | Fetal Akinesia Deformation Sequence |
AR | 95.82 | 3 of 3 |
OCLN | Pseudo-Torch Syndrome, Intrauterine Infection-Like Syndrome |
AR | 86.89 | 15 of 17 |
OCRL | Dent Disease, Lowe Oculocerebrorenal Syndrome |
X,XR,G | 100 | – |
ODAD1 | Ciliary Dyskinesia |
AR | 99.68 | 10 of 10 |
ODAD2 | Ciliary Dyskinesia |
AR | 97.3 | 26 of 28 |
ODAD3 | Ciliary Dyskinesia |
AR | 95 | 4 of 4 |
ODAD4 | Ciliary Dyskinesia |
AR | – | – |
ODC1 | Colorectal Cancer, Global Developmental Delay, Alopecia, Macrocephaly, Facial Dysmorphism, Structural Brain Anomalies |
AD | 100 | 7 of 7 |
OFD1 | Joubert Syndrome, Orofaciodigital Syndrome, Retinitis Pigmentosa, Simpson-Golabi– Behmel Syndrome, Orofaciodigital Syndrome, Primary Ciliary Dyskinesia |
X,XR,XD,G | 98.09 | – |
OPHN1 | Mental Retardation, Cerebellar Hypoplasia, Distinctivefacial Appearance |
X,XR,G | 100 | – |
OSGEP | Galloway- Mowat Syndrome |
AR | 99.17 | 19 of 19 |
OSTM1 | Osteopetrosis, Neuroaxonal Dysplasia |
AR | 100 | 8 of 9 |
OTUD6B | Intellectual Developmental Disorder, Seizures, Distal Limb Anomalies, Facial Dysmorphism, Global Developmental Delay |
AR | 99.81 | 7 of 7 |
PAFAH1B1 | Lissencephaly, 17p13.3 Microduplication Syndrome, Miller-Dieker Syndrome |
AD | 99.95 | 90 of 92 |
PALB2 | Fanconi Anemia, Breast And Ovarian Cancer |
AD,AR | 98.78 | 601 of 617 |
PARN | Dyskeratosis Congenita, Pulmonary Fibrosis, Bone Marrow Failure, Hoyeraal- Hreidarsson Syndrome |
AD,AR | 99.98 | 33 of 33 |
PAX6 | Aniridia, Anterior Segment Dysgenesis, Coloboma Of Optic Nerve, Foveal Hypoplasia, Presenile Cataract, Keratitis, Wilms Tumor, Cerebellar Ataxia, Intellectual Disability, Morning Glory Disc Anomaly, Peters Anomaly, Wagr Syndrome |
AD | 100 | 460 of 485 |
PCNT | Microcephalic Osteodysplastic Primordial Dwarfism, Seckel Syndrome |
AR | 99.92 | 103 of 105 |
PDGFB | Basal Ganglia Calcification, Meningioma, Bilateral Striopallidodentate Calcinosis, Dermatofibrosarcoma Protuberans |
AD | 100 | 22 of 22 |
PDGFRB | Basal Ganglia Calcification, Kosaki Overgrowth Syndrome, Myeloproliferative Disorder, Myofibromatosis, Premature Aging Syndrome |
AD | 99.64 | 28 of 28 |
PDHA1 | Pyruvate Decarboxylase Deficiency, Leigh Syndrome, Leukodystrophy |
X,XD,G | 99.02 | – |
PHACTR1 | Epileptic Encephalopathy, West Syndrome |
AD | 99.89 | 5 of 5 |
PHC1 | Microcephaly | AR | 91.73 | 1 of 1 |
PHGDH | Neu-Laxova Syndrome, Phosphoglycerate Dehydrogenase Deficiency |
AR | 100 | 26 of 26 |
PIEZO2 | Arthrogryposis, Gordon Syndrome, Marden- Walker Syndrome |
AD,AR | 96.93 | 37 of 37 |
PIGB | Epileptic Encephalopathy |
AR | 99.97 | 10 of 10 |
PIGN | Multiple Congenital Anomalies, Hypotonia, Seizures, Fryns Syndrome |
AR | 93.97 | 36 of 39 |
PIGO | Hyperphosphatasia, Mental Retardation |
AR | 99.93 | 21 of 21 |
PIGQ | Epileptic Encephalopathy |
AR | 99.99 | 4 of 4 |
PIK3CA | Capillary Malformation Of The Lower Lip, Lipomatous Overgrowth, Multiple Cancer Types, Cowden Syndrome, Epidermal Nevus, Keratosis, Macrocephaly, Megalodactyly, Hemihyperplasia, Lynch Syndrome, Megalencephaly, Polymicrogyria |
AD | 99.58 | 54 of 58 |
PIK3CD | Immunodeficiency, Faciooculoskeletal Anomalies |
AD | 100 | 23 of 23 |
PLAA | Neurodevelopmental Disorder, Progressive Microcephaly, Spasticity, Brain Anomalies |
AR | 99.41 | 6 of 6 |
PLG | Plasminogen Deficiency, Hypoplasminogenemia |
AR | 100 | 79 of 79 |
PLPBP | Epilepsy | AR | 100 | – |
PMM2 | Congenital Disorder Of Glycosylation |
AR | 100 | 127 of 129 |
PMPCA | Spinocerebellar Ataxia, Cerebelloparenchymal Disorder |
AR | 99.91 | 9 of 9 |
PNKP | Ataxia- Oculomotor Apraxia, Charcot-Marie- Tooth Disease, Epileptic Encephalopathy |
AR | 100 | 36 of 36 |
POLR2A | Neurodevelopmental Disorder, Hypotonia |
AD | 100 | 17 of 17 |
POLR3A | Leukodystrophy, Oligodontia, Hypogonadotropic Hypogonadism, Progeroid Syndrome, Hypomyelination, Hypodontia, Tremor, Ataxia, Wiedemann- Rautenstrauch Syndrome |
AR | 100 | 122 of 122 |
POMGNT1 | Muscular Dystrophy- Dystroglycanopathy, Limb Girdle Muscular Dystrophy, Retinitis Pigmentosa, Muscle-Eye- Brain Disease, Walker- Warburg Syndrome |
AR | 99.91 | 82 of 83 |
POMGNT2 | Muscular Dystrophy- Dystroglycanopathy, Limb Girdle Muscular Dystrophy, Retinitis Pigmentosa, Muscle-Eye- Brain Disease, Walker- Warburg Syndrome |
AR | 100 | 10 of 10 |
POMK | Muscular Dystrophy- Dystroglycanopathy, Limb Girdle Muscular Dystrophy, Retinitis Pigmentosa, Muscle-Eye- Brain Disease, Walker- Warburg Syndrome |
AR | 99.99 | 8 of 8 |
POMT1 | Muscular Dystrophy- Dystroglycanopathy, Limb Girdle Muscular Dystrophy, Muscle-Eye- Brain Disease, Walker-Warburg Syndrome |
AR | 100 | 105 of 105 |
POMT2 | Muscular Dystrophy- Dystroglycanopathy, Muscle-E ye- Brain Disease, Limb-Girdle Muscular Dystrophy, Walker- Warburg Syndrome |
AR | 100 | 74 of 74 |
PPP1CB | Noonan Syndrome | AD | 99.87 | 12 of 12 |
PPP2CA | Neurodevelopmental Disorder, Language Delay |
AD | 99.9 | 14 of 14 |
PPP2R1A | Mental Retardation, Microcephaly, Corpus Callosum Hypoplasia |
AD | 91.99 | 6 of 6 |
PPP2R5D | Mental Retardation, Macrocephaly, Hypotonia |
AD | 100 | 11 of 11 |
PRDM16 | Left Ventricular Noncompaction, 1p36 Deletion Syndrome, Dilated Cardiomyopathy |
AD | 98.81 | 20 of 20 |
PRNP | Creutzfeldt- Jakob Disease, Insomnia, Gerstmann- Straussler Disease, Huntington Disease, Kuru, Spongiform Encephalopathy, Neuropsychiatric Features, Alzheimer |
AD | 100 | 69 of 69 |
PSAT1 | Neu-Laxova Syndrome, Phosphoserine Aminotransferase Deficiency |
AR | 99.95 | 9 of 9 |
PTCH1 | Basal Cell Carcinoma, Holoprosencephaly, Gorlin Syndrome, Monosomy 9q22.3 |
AD | 98.89 | 498 of 502 |
PTPN23 | Neurodevelopmental Disorder, Structural Brain Anomalies, Seizures, Spasticity |
AR | 99.99 | 17 of 17 |
PUF60 | Verheij Syndrome, 8q24.3 Microdeletion Syndrome, Intellectual Disability, Cardiac Anomalies, Short Stature, Joint Laxity |
AD | 100 | 30 of 30 |
PUS3 | Mental Retardation, Severe Growth Deficiency, Strabismus, Extensive Dermal Melanocytosis |
AR | 99.01 | 8 of 9 |
PWAR1 | Prader-Willi Syndrome |
AD | – | – |
PWRN1 | Prader-Willi Syndrome |
AD | – | – |
PYCR2 | Leukodystrophy, Microcephaly |
AR | 98.29 | 14 of 14 |
QARS1 | Microcephaly, Cerebral Atrophy |
AR | – | – |
RAB18 | Warburg Micro Syndrome, Micro Syndrome |
AR | 100 | 4 of 4 |
RAC1 | Mental Retardation, Microcephaly, Corpus Callosum, Cerebellar Vermis Hypoplasia, Facial Dysmorphism |
AD | 98.73 | 9 of 9 |
RAC3 | Neurodevelopmental Disorder, Structural Brain Anomalies, Dysmorphic Facies |
AD | 94.13 | 5 of 5 |
RAD21 | Cornelia De Lange Syndrome, Mungan Syndrome |
AD,AR | 99.8 | 16 of 17 |
RAD51 | Breast And Ovarian Cancer, Fanconi Anemia, Mirror Movements |
AD | 99.98 | 16 of 16 |
RAD51C | Breast- Ovarian Cancer, Fanconi Anemia |
AR | 100 | 130 of 130 |
RAI1 | Smith-Magenis Syndrome, 17p11.2 Microduplication Syndrome |
AD | 99.91 | 50 of 53 |
RAPSN | Fetal Akinesia Deformation Sequence, Myasthenic Syndrome, Acetylcholine Receptor Deficiency |
AR | 99.98 | 59 of 61 |
RERE | Neurodevelopmental Disorder, Anomalies Of The Brain, Eye Or Heart, 1p36 Deletion Syndrome |
AD | 92.43 | 21 of 21 |
RFWD3 | Fanconi Anemia |
AR | 99.99 | 2 of 2 |
RHOBTB2 | Epileptic Encephalopathy |
AD | 100 | 6 of 6 |
RNASEH2A | Aicardi- Goutieres Syndrome |
AR | 100 | 23 of 23 |
RNASEH2B | Aicardi- Goutieres Syndrome |
AR | 99.95 | 41 of 41 |
RNASEH2C | Aicardi- Goutieres Syndrome |
AR | 100 | 14 of 14 |
RNASET2 | Leukoencephalopathy | AR | 100 | 11 of 13 |
RNF113A | Trichothiodystrophy | X,XD,G | 99.7 | – |
RNF125 | Tenorio Syndrome |
AD | 100 | 3 of 3 |
RNF213 | Moyamoya Disease |
– | 99.82 | 109 of 110 |
ROGDI | Kohlschutter-Tonz Syndrome, Amelocerebrohypohidrotic Syndrome |
AR | 99.83 | 10 of 12 |
RPGR | Cone-Rod Dystrophy, Macular Degeneration, Retinitis Pigmentosa, Deafness, Achromatopsia, Ciliary Dyskinesia |
X,XR,G | 94 | – |
RPGRIP1 | Cone-Rod Dystrophy, Leber Amaurosis, Meckel Syndrome |
AR | 99.33 | 146 of 159 |
RPGRIP1L | Coach Syndrome, Joubert Syndrome, Meckel Syndrome |
AR | 99.96 | 52 of 52 |
RPS6KA3 | Coffin-Lowry Syndrome, Mental Retardation |
X,XD,G | 99.95 | – |
RRAS2 | Noonan Syndrome |
AD | 99.8 | 6 of 6 |
RSPH1 | Ciliary Dyskinesia |
AR | 100 | 10 of 10 |
RSPH3 | Ciliary Dyskinesia |
AR | 99.85 | 5 of 5 |
RSPH4A | Ciliary Dyskinesia |
AR | 99.98 | 27 of 27 |
RSPH9 | Ciliary Dyskinesia |
AR | 100 | 13 of 13 |
RTEL1 | Dyskeratosis Congenita, Pulmonary Fibrosis, Bone Marrow Failure, Hoyeraal- Hreidarsson Syndrome |
AD,AR | 99.73 | 127 of 131 |
RTTN | Microcephaly, Polymicrogyria, Seizures, Dwarfism |
AR | 99.94 | 28 of 29 |
RXYLT1 | Muscular Dystrophy- Dystroglycanopathy, Walker-Warburg Syndrome |
AR | 99.46 | – |
SAMHD1 | Aicardi-Goutieres Syndrome, Chilblain Lupus |
AD,AR | 100 | 51 of 51 |
SASS6 | Microcephaly | AR | 99.14 | 6 of 6 |
SCO2 | Cardioencephalomyopathy, Cytochrome C Oxidasedeficiency, Myopia, Charcot- Marie-Tooth Disease, Copper Metabolism Defect, Leigh Syndrome |
AD,AR | 100 | 38 of 38 |
SEC31A | Neurodevelopmental Disorder, Spastic Quadriplegia, Optic Atrophy, Seizures |
AR | 99.92 | 3 of 3 |
SEMA3E | Charge Syndrome, Hypogonadotropic Hypogonadism |
AD,AR | 99.81 | 6 of 7 |
SETBP1 | Mental Retardation, Schinzel-Giedion Syndrome, Expressive Aphasia, Facial Dysmorphism Syndrome |
AD | 98.61 | 43 of 43 |
SETD2 | Luscan-Lumish Syndrome, Sotos Syndrome |
AD | 99.83 | 19 of 19 |
SETD5 | Mental Retardation, Cornelia De Lange Syndrome |
AD | 99.77 | 37 of 37 |
SH2B1 | 16p11.2 Microdeletion Syndrome, Obesity, Insulin Resistance Syndrome |
– | 99.98 | 25 of 25 |
SHANK3 | Phelan-Mcdermid Syndrome, Schizophrenia, Monosomy 22q13.3 |
AD,MU,P | 96.67 | – |
SHH | Holoprosencephaly Microphthalmia, Schizencephaly, Hypoplastic Tibiae, Postaxial Polydactyly, Radial Hemimelia, Syndactyly |
AD | 99.48 | 161 of 184 |
SHPK | Sedoheptulokinase Deficiency |
– | 99.96 | 2 of 2 |
SIM1 | 6q16 Microdeletion Syndrome, Obesity, Prader-Willi-Like Syndrome |
– | 99.64 | 39 of 40 |
SIN3A | Chromosome 15q24 Deletion Syndrome, Mental Retardation |
AD | 99.94 | 18 of 18 |
SKI | Shprintzen-Goldberg Syndrome, 1p36 Deletion Syndrome |
AD | 99.66 | 39 of 39 |
SLC12A6 | Peripheral Neuropathy, Corpus Callosum Agenesis |
AR | 100 | 21 of 21 |
SLC13A5 | Epileptic Encephalopathy, Amelocerebrohypohidrotic Syndrome |
AR | 95.92 | 24 of 24 |
SLC18A3 | Myasthenic Syndrome, Fetal Akinesia Deformation Sequence |
AR | 99.97 | 5 of 5 |
SLC20A2 | Basal Ganglia Calcification, Bilateral Striopallidodentate Calcinosis |
AD | 99.96 | 123 of 127 |
SLC25A1 | Hydroxyglutaric Aciduria, Myasthenic Syndrome |
AR | 90 | 23 of 25 |
SLC25A19 | Microcephaly, Thiamine Metabolism Dysfunction Syndrome |
AR | 97.13 | 10 of 10 |
SLC35A2 | Congenital Disorder Of Glycosylation |
X,XD,G | 99.97 | – |
SLC39A8 | Congenital Disorder Of Glycosylation |
AR | 99.89 | 7 of 7 |
SLC6A9 | Glycine Encephalopathy |
AR | 99.99 | 5 of 5 |
SLC9A6 | Mental Retardation, Christianson Syndrome |
X,XD,G | 98.87 | – |
SLX4 | Fanconi Anemia |
AR | 99.92 | 76 of 76 |
SMARCA4 | Coffin-Siris Syndrome, Rhabdoid Tumor Predisposition Syndrome |
AD | 100 | 68 of 69 |
SMARCB1 | Coffin-Siris Syndrome, Rhabdoid Tumor Predisposition Syndrome, Schwannomatosis, Meningioma |
AD | 100 | 97 of 99 |
SMARCC2 | Coffin-Siris Syndrome |
AD | 99.49 | 16 of 16 |
SMARCD1 | Coffin-Siris Syndrome |
AD | 93.17 | 7 of 7 |
SMARCE1 | Coffin-Siris Syndrome, Meningioma |
AD | 98.98 | 15 of 15 |
SMC1A | Cornelia De Lange Syndrome, Semilobar Holoprosencephaly, Wiedemann- Steiner Syndrome |
X,XR,XD,G | 100 | – |
SMC3 | Cornelia De Lange Syndrome |
AD | 100 | 30 of 30 |
SMG9 | Heart And Brain Malformation Syndrome |
AR | 100 | 4 of 4 |
SMO | Basal Cell Carcinoma, Craniofacial Malformations, Hypothalamic Hamartomascongenital Hypothalamic Hamartoma Syndrome, Curry-Jones Syndrome, Meningioma |
AR | 94.03 | 10 of 10 |
SNIP1 | Psychomotor Retardation, Epilepsy, Craniofacial Dysmorphism |
AR | 99.68 | 1 of 1 |
SNORD115-1 | Prader-Willi Syndrome |
AD | – | – |
SNORD116-1 | Prader-Willi Syndrome |
AD | – | – |
SNRPN | Autism, Prader-Willi Syndrome |
AD,MU | 100 | 2 of 2 |
SON | Zttk Syndrome, Brain Malformations, Musculoskeletal Abnormalities, Facial Dysmorphism, Intellectual Disability |
AD | 99.27 | 30 of 32 |
SOX11 | Mental Retardation, Coffin-Siris Syndrome |
AD | 95.23 | 11 of 11 |
SOX4 | Coffin-Siris Syndrome |
AD | 75.52 | 4 of 4 |
SOX9 | Campomelic Dysplasia, Testicular Disorder Of Sex Development, Partial Gonadal Dysgenesis, Pierre Robin Syndrome |
AD | 97.28 | 87 of 95 |
SPAG1 | Ciliary Dyskinesia |
AR | 94.8 | 11 of 12 |
SPECC1L | Facial Clefting, Hypertelorism, Opitz Gbbb Syndrome |
AD | 99.66 | 14 of 14 |
SPEF2 | Spermatogenic Failure, Ciliary Dyskinesia |
AR | 99.6 | 10 of 13 |
SPG11 | Amyotrophic Lateral Sclerosis, Charcot-Marie- Tooth Disease, Spastic Paraplegia |
AR | 99.93 | 289 of 297 |
STAC3 | Native American Myopathy |
AR | 99.98 | 5 of 5 |
STIL | Microcephaly | AR | 99.94 | 18 of 18 |
STK36 | Ciliary Dyskinesia |
– | 100 | 5 of 5 |
STRADA | Polyhydramnios, Megalencephaly, Symptomatic Epilepsy |
AR | 97.95 | 4 of 6 |
SUCLA2 | Mitochondrial Dna Depletion Syndrome, Methylmalonic Aciduria |
AR | 100 | 27 of 27 |
SUFU | Basal Cell Nevus Syndrome, Joubert Syndrome, Medulloblastoma, Acrocallosal Syndrome, Gorlin Syndrome, Meningioma, Microform Holoprosencephaly |
AD,AR | 99.99 | 43 of 43 |
SUMF1 | Multiple Sulfatase Deficiency |
AR | 100 | 52 of 52 |
SURF1 | Charcot-Marie- Tooth Disease, Leigh Syndrome, Cardiomyopathy, Leukodystrophy |
AR,MI | 98.59 | 117 of 124 |
TAF1 | Dystonia, Mental Retardation, Dystonia, Parkinson Disease, Global Development Delay, Facial Dysmorphism, Sacral Caudal Remnant |
X,XR,G | 99.74 | – |
TAF13 | Mental Retardation, Microcephaly |
AR | 99.97 | 5 of 5 |
TAPT1 | Osteochondrodysplasia | AR | 89.49 | 3 of 3 |
TARS1 | Trichothiodystrophy | AR | 99.94 | – |
TBC1D24 | Deafness, Doors Syndrome, Epilepsy, Epileptic Encephalopathy |
AD,AR | 100 | 80 of 80 |
TBCD | Encephalopathy, Brain Atrophy, Thin Corpus Callosum, Microcephaly, Muscle Weakness Optic Atrophy |
AR | 94.89 | 28 of 28 |
TBCE | Encephalopathy, Amyotrophy, Optic Atrophy, Hypoparathyroidism, Kenny-Caffey Syndrome, Spastic Ataxia, Distal Spinal Muscular Atrophy, Sanjad-Sakati Syndrome |
AR | 100 | 8 of 8 |
TBCK | Hypotonia, Psychomotor Retardation, Intellectual Disability |
AR | 99.95 | 15 of 15 |
TBL1XR1 | Mental Retardation, Pierpont Syndrome, Promyelocytic Leukemia |
AD | 99.78 | 23 of 23 |
TCTN2 | Joubert Syndrome, Meckel Syndrome |
AR | 100 | 14 of 14 |
TERT | Aplastic Anemia, Dyskeratosis Congenita, Leukemia, Melanoma, Pulmonary Fibrosis, Bone Marrow Failure, Hoyeraal- Hreidarsson Syndrome, Meningioma |
AD,AR | 99.09 | 194 of 197 |
TET3 | Beck-Fahrner Syndrome |
AD,AR | 97.53 | 1 of 1 |
TGDS | Catel-Manzke Syndrome |
AR | 99.99 | 7 of 7 |
THOC2 | Mental Retardation, Short Stature, Overweight |
X,XR,G | 96.31 | – |
THOC6 | Microcephaly, Cardiac And Genitourinary Malformations, Developmental Delay, Facial Dysmorphism |
AR | 100 | 13 of 13 |
TINF2 | Dyskeratosis Congenita, Revesz Syndrome, Hoyeraal-Hreidarsson Syndrome |
AD | 99.94 | 47 of 47 |
TMCO1 | Cerebrofaciothoracic Dysplasia |
AR | 88 | 5 of 5 |
TMEM107 | Meckel Syndrome, Orofaciodigital Syndrome |
AR | 100 | 3 of 3 |
TMEM138 | Joubert Syndrome, Oculorenal Defect |
AR | 99.94 | 9 of 9 |
TMEM216 | Joubert Syndrome, Meckel Syndrome, Orofaciodigital Syndrome |
AR | 98.74 | 8 of 8 |
TMEM231 | Joubert Syndrome, Meckel Syndrome, Oculorenal Defect, Orofaciodigital Syndrome |
AR | 98.63 | 20 of 21 |
TMEM237 | Joubert Syndrome, Oculorenal Defect |
AR | 100 | 11 of 11 |
TMEM67 | Bardet-Biedl Syndrome, Coach Syndrome, Joubert Syndrome, Meckel Syndrome, Nephronophthisis, Rhyns Syndrome, Hepatic Defect |
AR | 96.93 | 177 of 179 |
TMTC3 | Lissencephaly, Periventricular Nodular Heterotopia |
AR | 99.04 | 10 of 10 |
TMX2 | Neurodevelopmental Disorder, Microcephaly, Cortical Malformations, Spasticity |
AR | 99.98 | 12 of 12 |
TNFRSF11A | Osteopetrosis, Paget Disease Of Bone, Polyostotic Osteolytic Dysplasia, Dysosteosclerosis |
AD,AR | 96.37 | 17 of 22 |
TNNI3 | Cardiomyopathy | AD,AR | 100 | 139 of 139 |
TPRKB | Galloway- Mowat Syndrome |
AR | 85.66 | 2 of 2 |
TRAF7 | Cardiac, Facial, And Digital Anomalies, Developmental Delay, Meningioma |
AD | 100 | 5 of 5 |
TRAIP | Seckel Syndrome |
AR | 100 | 2 of 2 |
TRAPPC12 | Encephalopathy, Brain Atrophy, Spasticity, Hearing Loss, Pons Hypoplasia, Brain Atrophy |
AR | 99.98 | 3 of 3 |
TRAPPC14 | Microcephaly | AR | – | – |
TRAPPC6B | Neurodevelopmental Disorder, Microcephaly, Epilepsy, Brain Atrophy |
AR | 100 | 4 of 4 |
TREM2 | Polycystic Lipomembranous Osteodysplasia, Sclerosing Leukoencephalopathy, Amyotrophic Lateral Sclerosis, Frontotemporal And Semantic Dementia, Alzheimer Disease, Nasu- Hakola Disease, Non-Fluent Aphasia |
AD | 100 | 55 of 55 |
TREX1 | Aicardi-Goutieres Syndrome, Lupus Erythematosus, Vasculopathy, Leukodystrophy |
AD,AR | 100 | 75 of 75 |
TRIM37 | Mulibrey Nanism |
AR | 97 | 20 of 22 |
TRIM71 | Hydrocephalus | AD | 97.46 | 2 of 2 |
TRIP13 | Mosaic Variegated Aneuploidy Syndrome, Nephroblastoma |
AR | 98.14 | 2 of 2 |
TRPS1 | Trichorhinophalangeal Syndrome |
AD | 99.45 | 108 of 112 |
TSEN2 | Pontocerebellar Hypoplasia |
AR | 95.47 | 4 of 5 |
TSFM | Oxidative Phosphorylation Deficiency |
AR | 93.35 | 11 of 14 |
TTC12 | Ciliary Dyskinesia |
AR | 99.97 | – |
TUBA1A | Lissencephaly | AD | 100 | 95 of 95 |
TUBB | Cortical Dysplasia |
AD | 100 | 8 of 8 |
TUBB2A | Cortical Dysplasia |
AD | 81.71 | 5 of 7 |
TUBB2B | Cortical Dysplasia, Dysequilibrium Syndrome, Polymicrogyria |
AD | 84.28 | 29 of 38 |
TUBB3 | Cortical Dysplasia, Fibrosis Of Extraocular Muscles, Cortical Dysgenesis, Pontocerebellar Hypoplasia |
AD | 99.96 | 30 of 30 |
TYROBP | Polycystic Lipomembranous Osteodysplasia, Sclerosing Leukoencephalopathy, Nasu-Hakola Disease |
AR | 100 | 12 of 13 |
UBE2T | Fanconi Anemia |
AR | 100 | 4 of 4 |
UBE3B | Kaufman Oculocerebrofacial Syndrome |
AR | 100 | 28 of 28 |
UBTF | Neurodegeneration, Motor And Cognitive Regression Syndrome, Extrapyramidal Movement Disorder |
AD | 99.99 | 2 of 2 |
UGDH | Epileptic Encephalopathy |
AR | 99.98 | 2 of 2 |
USP18 | Pseudo-Torch Syndrome |
AR | 95.84 | 1 of 1 |
USP7 | 16p13.2 Microdeletion Syndrome |
AD | 99.98 | 18 of 18 |
USP9X | Facial Dysmorphism, Short Stature, Intellectual Disability |
X,XR,XD,G | 98.61 | – |
VPS11 | Leukodystrophy | AR | 100 | 2 of 2 |
VPS13A | Choreoacanthocytosis | AR | 99.37 | 120 of 122 |
VPS37A | Spastic Paraplegia | AR | 99.95 | 2 of 2 |
VPS51 | Pontocerebellar Hypoplasia | AR | 99.98 | 1 of 1 |
WAC | Desanto-Shinaw i Syndrome, Facial Dysmorphism, Developmental Delay, Behavioral Abnormalities |
AD | 98.98 | 35 of 35 |
WARS2 | Neurodevelopmental Disorder, Lactic Acidosis, Oxidative Phosphorylation Defect |
AR | 99.95 | 14 of 15 |
WASF1 | Neurodevelopmental Disorder, Absent Language, Seizures |
AD | 97.03 | 3 of 3 |
WASHC5 | Dandy-Walker Malformation, Atrioventricular Septal Defect, Spastic Paraplegia, 3c Syndrome |
AD,AR | 99.99 | – |
WDPCP | Bardet-Biedl Syndrome, Congenital Heart Defects, Hamartomas Of Tongue, Polysyndactyly, Heart Defect, Tongue Hamartoma, Meckel Syndrome |
AR | 99.3 | 8 of 8 |
WDR26 | Skraban-Deardorff Syndrome, Intellectual Disability, Seizures, Facial Dysmorphism |
AD | 99.31 | 22 of 22 |
WDR35 | Cranioectodermal Dysplasia, Short-Rib Thoracic Dysplasia, Polydactyly |
AR | 100 | 31 of 33 |
WDR45B | Neurodevelopmental Disorder, Spastic Quadriplegia, Brain Abnormalities, Seizures |
AR | 99 | 4 of 4 |
WDR62 | Microcephaly | AR | 100 | 60 of 61 |
WDR73 | Galloway- Mowat Syndrome, Camos Syndrome |
AR | 95.71 | 14 of 14 |
WDR81 | Cerebellar Hypoplasia, Mental Retardation, Hydrocephalus, Brain Anomalies, Dysequilibrium Syndrome |
AR | 99.94 | 19 of 19 |
WHCR | Wolf-Hirschhorn Syndrome |
AD | na | – |
XPR1 | Basal Ganglia Calcification, Bilateral Striopallidodentate Calcinosis |
AD | 99.88 | 14 of 14 |
XRCC2 | Fanconi Anemia, Male Infertility |
AR | 98.39 | 28 of 28 |
XRCC4 | Short Stature, Microcephaly, Endocrine Dysfunction, Lig4 Syndrome, Dwarfism |
AR | 99.73 | 10 of 10 |
YWHAE | 17p13.3 Microduplication Syndrome, Miller-Dieker Syndrome |
– | 98.99 | 0 of 1 |
YY1 | Gabriele-De Vries Syndrome |
AD | 99.89 | 13 of 13 |
ZBTB11 | Intellectual Developmental Disorder |
AR | 99.56 | 2 of 2 |
ZC4H2 | Wieacker-Wolff Syndrome, Intellectual Disability, Developmental Delay |
X,XR,XD,G | 99.69 | – |
ZEB2 | Mowat-Wilson Syndrome |
AD | 98.95 | 253 of 254 |
ZIC1 | Craniosynostosis, Structural Brain Anomalies, Impaired Intellectual Development, Brachycephaly, Oxycephaly, Plagiocephaly |
AD | 100 | 7 of 7 |
ZMIZ1 | Neurodevelopmental Dysmorphic Facies, Distal Skeletal Anomalies |
AD | 98.87 | 13 of 13 |
ZMYND10 | Ciliary Dyskinesia |
AR | 99.98 | 16 of 16 |
ZNF148 | Global Developmental Delay |
AD | 99.82 | 4 of 4 |
ZNF335 | Microcephaly, Dwarfism |
AR | 99.83 | 20 of 20 |
ZNF462 | Weiss- Kruszka Syndrome |
AD | 100 | 21 of 21 |
ZNHIT3 | Peho Syndrome |
AR | 73.96 | 1 of 1 |
ZSWIM6 | Acromelic Frontonasal Dysostosis, Neurodevelopmental Disorder, Movement Abnormalities, Abnormal Gait, And Autistic Features |
AD | 91.16 | 2 of 2 |
* 유전패턴: AD: 상염색체 우성; AR: 상염색체 열성 ; X: X 연관; XLR: X연관 열성 ; Mi: 미토콘드리아; Mu: 다인자
** HGMD: HGMD에 따른 임상적으로 관련된 변이수
참고 문헌
Perlman S, Shashar D, Hoffmann C, Yosef OB, Achiron R, Katorza E. Prenatal diagnosis of fetal ventriculomegaly: Agreement between fetal brain ultrasonography and MR imaging. AJNR Am J Neuroradiol. 2014 Jun;35(6):1214-8. doi: 10.3174/ajnr.A3839. Epub 2014 Jan 16. PMID: 24436347
Society for Maternal-Fetal Medicine (SMFM);. Electronic address: pubs@smfm.org, Fox, N. S., Monteagudo, A., Kuller, J. A., Craigo, S., & Norton, M. E. (2018). Mild fetal ventriculomegaly: diagnosis, evaluation, and management. American journal of obstetrics and gynecology, 219(1), B2–B9. https://doi.org/10.1016/j.ajog.2018.04.039
Kahle, K. T., Kulkarni, A. V., Limbrick, D. D., Jr, & Warf, B. C. (2016). Hydrocephalus in children. Lancet (London, England), 387(10020), 788–799. https://doi.org/10.1016/S0140-6736(15)60694-8
Wang, Y., Hu, P., & Xu, Z. (2018). Copy number variations and fetal ventriculomegaly. Current opinion in obstetrics & gynecology, 30(2), 104–110. https://doi.org/10.1097/GCO.0000000000000439
Yi, J. L., Zhang, W., Meng, D. H., Ren, L. J., Yu, J., & Wei, Y. L. (2019). Epidemiology of fetal cerebral ventriculomegaly and evaluation of chromosomal microarray analysis versus karyotyping for prenatal diagnosis in a Chinese hospital. The Journal of international medical research, 47(11), 5508–5517. https://doi.org/10.1177/0300060519853405
Pisapia, J. M., Sinha, S., Zarnow, D. M., Johnson, M. P., & Heuer, G. G. (2017). Fetal ventriculomegaly: Diagnosis, treatment, and future directions. Child’s nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery, 33(7), 1113–1123. https://doi.org/10.1007/s00381-017-3441-y
Scelsa, B., Rustico, M., Righini, A., Parazzini, C., Balestriero, M. A., Introvini, P., Spaccini, L., Mastrangelo, M., Lista, G., Zuccotti, G. V., & Veggiotti, P. (2018). Mild ventriculomegaly from fetal consultation to neurodevelopmental assessment: A single center experience and review of the literature. European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society, 22(6), 919–928. https://doi.org/10.1016/j.ejpn.2018.04.001