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Genomics Precision Diagnostic > Prenatal > 뇌실확장증 정밀 패널

뇌실확장증(Ventriculomegaly) 정밀 패널

뇌실확장증(Ventriculomegaly)은 뇌 발육 부전이나 위축으로 인한 팽창과 같은 뇌척수액 압력 증가와는 관련이 없는 심실 팽창을 설명하는 데 사용되는 용어입니다. 
개요
징후
임상적 유용성
유전자와 질병
검사 과정
참고 문헌

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.  

징후

  • Igenomix 뇌실확장증 정밀 패널은 다음과 증상을 보이는 뇌실확장증의 초음파 소견이 있는 환자에게 필요합니다.
    • 심방의 직경: 10mm 이상
    • 뇌척수액 막힘

임상적 유용성

이 패널의 임상적 유용성은 다음과 같습니다.

  • 증상이 있는 환자의 정확한 임상 진단을 위한 유전적/분자적 확인
  • 뇌실확장증의 잠재적 악화에 대한 산전과 산후 후속 조치뿐만 아니라 초음파 감시의 조기 시작
  • 유전 방식에 따른 무증상 가족 구성원의 위험 평가
  • 유전자형-표현형 상관 관계 설명의 개선
  • 관련 장애의 유전적 기초를 식별하여 두뇌 발달 메커니즘에 대해 보다 잘 일해할 수 있음.

유전자와 질병

관련 유전자 및 질병 리스트
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 

검사 과정

참고 문헌

See scientific referrals

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 

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