Description
This is a list of genes that have been curated by ClinGen and are available here https://search.clinicalgenome.org/kb/gene-validity.

The validity classification by ClinGen for each gene-disease is reflected in the gene rating:
- Green = Definitive or Strong
- Amber = Moderate
- Red = Disputed, Disputed, Limited, No Reported Evidence, or Refuted

The disease this classification is specific to is given in the 'phenotype' section. For the full report and publications, see the ClinGen Gene Validity Curation for each gene: https://search.clinicalgenome.org/kb/gene-validity. 

For genes curated by ClinGen for Familial thoracic aortic aneurysm and aortic dissection, see the seperate panel available here: https://panelapp.extge.co.uk/crowdsourcing/PanelApp/EditPanel/594be3878f62037ee3e7e72f 

This panel was created on 22nd June 2017.

3 reviewers

  • Ellen McDonagh (Genomics England Curator)

    Group: other
    Workplace: other

  • Sarah Leigh (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Louise Daugherty (Genomics England Curator)

    Group: Other
    Workplace: Other

47 Entities

47 reviewed, 26 green

List Entity Reviews Mode of inheritance Details
47 Entitiess
Green Green List (high evidence)
ADGRV1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • ClinGen
  • Expert Review Green
  • Other
Phenotypes
  • Usher Syndrome, Type 2C
  • Orphanet:231178
  • OMIM:605472
Tags
Green Green List (high evidence)
ALMS1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • ClinGen
  • Expert Review Green
  • Other
Phenotypes
  • Alstrom syndrome
  • ORPHA64
  • OMIM:203800
Tags
Green Green List (high evidence)
ATF6
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • ClinGen
  • Expert Review Green
  • Other
Phenotypes
  • Achromatopsia
Tags
Green Green List (high evidence)
BAG3
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • ClinGen
  • Expert Review Green
  • Other
Phenotypes
  • myofibrillar myopathy 6
  • ORPHA593
  • OMIM 612954
Tags
Green Green List (high evidence)
C1QB
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • ClinGen
  • Expert Review Green
  • Other
Phenotypes
  • Immunodeficiency due to an early component of complement deficiency
  • ORPHA169147
  • OMIM 613652
Tags
Green Green List (high evidence)
CD3E
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • ClinGen
  • Expert Review Green
  • Other
Phenotypes
  • Immunodeficiency 18
  • ORPHA183660
  • OMIM 615615
Tags
Green Green List (high evidence)
CDH23
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • ClinGen
  • Expert Review Green
  • Other
Phenotypes
  • Usher Syndrome, Type 1
  • OrphaNet 231169
  • OMIM 276900
Tags
Green Green List (high evidence)
CEP78
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • ClinGen
  • Expert Review Green
Phenotypes
  • Cone-Rod Dystrophy and Hearing Loss
  • CRDHL
  • OMIM:617236
Tags
Green Green List (high evidence)
DICER1
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • ClinGen
  • Expert Review Green
  • Other
Phenotypes
  • Pleuropulmonary Blastoma
  • ORPHA64742
  • OMIM 601200
Tags
Green Green List (high evidence)
DNMT1
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • ClinGen
  • Expert Review Green
  • Other
Phenotypes
  • DNMT1 Methylopathy
  • ORPHA314404
  • OMIM 604121
  • autosomal dominant cerebellar ataxia, deafness and narcolepsy
Tags
Green Green List (high evidence)
FGFR3
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • ClinGen
  • Expert Review Green
  • Other
Phenotypes
  • Achondroplasia
  • ORPHA15
  • OMIM 100800
Tags
Green Green List (high evidence)
LRTOMT
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • ClinGen
  • Expert Review Green
  • Other
Phenotypes
  • Sensorineural hearing loss
  • OrphaNet: ORPHA90636
  • OMIM:611451
Tags
Green Green List (high evidence)
NGLY1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • ClinGen
  • Expert Review Green
  • Other
Phenotypes
  • Alacrimia-choreoathetosis-liver dysfunction syndrome
  • OrphaNet: ORPHA404454
  • OMIM:615273
Tags
Green Green List (high evidence)
OTOF
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • ClinGen
  • Expert Review Green
Phenotypes
  • Sensorineural Hearing Loss (Auditory Neuropathy)
  • OrphaNet 90636
  • OMIM 601071
Tags
Green Green List (high evidence)
PALB2
1 review
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • ClinGen
  • Expert Review Green
Phenotypes
  • Hereditary breast cancer
  • OrphaNet ORPHA227535
  • OMIM114480
Tags
Green Green List (high evidence)
PCDH15
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • ClinGen
  • Expert Review Green
Phenotypes
  • Usher syndrome type 1F
  • OrphaNet ORPHA231169
  • OMIM602083
Tags
Green Green List (high evidence)
RIPOR2
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • ClinGen
  • Expert Review Green
Phenotypes
  • autosomal recessive nonsyndromic deafness 104
Tags
Green Green List (high evidence)
RPS10
1 review
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • ClinGen
  • Expert Review Green
Phenotypes
  • Diamond-Blackfan anemia
  • OrphaNet ORPHA124
  • OMIM 613308
Tags
Green Green List (high evidence)
RPS24
1 review
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • ClinGen
  • Expert Review Green
Phenotypes
  • Diamond-Blackfan anemia
  • OrphaNet ORPHA124
  • OMIM 610629
Tags
Green Green List (high evidence)
SKI
1 review
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • ClinGen
  • Expert Review Green
Phenotypes
  • Shprintzen-Goldberg syndrome
  • OrphaNet ORPHA2462
  • OMIM182212
Tags
Green Green List (high evidence)
SMAD3
1 review
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • ClinGen
  • Expert Review Green
Phenotypes
  • Aneurysm-osteoarthritis syndrome
  • OrphaNet ORPHA284984
  • OMIM 613795
Tags
Green Green List (high evidence)
TMC1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • ClinGen
  • Expert Review Green
Phenotypes
  • Sensorineural hearing loss
  • OrphaNet ORPHA90636
  • OMIM600974
Tags
Green Green List (high evidence)
USH1C
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • ClinGen
  • Expert Review Green
Phenotypes
  • Usher Syndrome, Type 1
  • OrphaNet ORPHA231169
  • OMIM276904
Tags
Green Green List (high evidence)
USH1G
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • ClinGen
  • Expert Review Green
Phenotypes
  • Usher Syndrome, Type 1
  • OrphaNet ORPHA231169
  • OMIM606943
Tags
Green Green List (high evidence)
USH2A
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • ClinGen
  • Expert Review Green
Phenotypes
  • Usher syndrome type 2
  • OrphaNet ORPHA231178
  • OMIM276901
Tags
Green Green List (high evidence)
WHRN
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • ClinGen
  • Expert Review Green
Phenotypes
  • Usher syndrome type 2D
Tags
Amber Amber List (moderate evidence)
COL2A1
2 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • ClinGen
  • Expert Review Amber
  • Other
Phenotypes
  • Spondyloepiphyseal dysplasia (Stanescu type)
  • OMIM 616583
Tags
Amber Amber List (moderate evidence)
DMXL2
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • ClinGen
  • Expert Review Amber
  • Other
Phenotypes
  • Sensorineural Hearing Loss
  • ORPHA90636
  • OMIM:612186
Tags
Amber Amber List (moderate evidence)
HNRNPK
1 review
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • ClinGen
  • Expert Review Amber
  • Other
Phenotypes
  • Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome due to a point mutation
  • OMIM:616580
  • Orphanet:453499
Tags
Amber Amber List (moderate evidence)
LAMB1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • ClinGen
  • Expert Review Amber
  • Other
Phenotypes
  • Lissencephaly 5
  • OrphaNet: 352682
  • OMIM:615191
Tags
Amber Amber List (moderate evidence)
LBR
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • ClinGen
  • Expert Review Amber
  • Other
Phenotypes
  • Anadysplasia-like, spontaneously remitting spondylometaphyseal dysplasia
  • ORPHA448267
Tags
Amber Amber List (moderate evidence)
RAD51C
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • ClinGen
  • Expert Review Amber
Phenotypes
  • Fanconi anemia
  • OrphaNet ORPHA84
  • OMIM 613390
Tags
Amber Amber List (moderate evidence)
SMARCA1
2 reviews
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • ClinGen
  • Expert Review Amber
Phenotypes
  • Coffin-Siris Syndrome
  • ORPHA1465
Tags
Amber Amber List (moderate evidence)
SOS2
1 review
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • ClinGen
  • Expert Review Amber
Phenotypes
  • Noonan syndrome
  • OrphaNet ORPHA648
  • OMIM616559
Tags
Amber Amber List (moderate evidence)
WRAP53
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • ClinGen
  • Expert Review Amber
Phenotypes
  • Dyskeratosis Congenita
  • OrphaNet ORPHA1775
  • OMIM613988
Tags
Red Red List (low evidence)
ADCY1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • ClinGen
  • Expert Review Red
Phenotypes
  • autosomal recessive nonsyndromic deafness 44
Tags
Red Red List (low evidence)
AGTR2
1 review
1 red
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • ClinGen
  • Expert Review Red
  • Other
Phenotypes
  • X-linked non-syndromic intellectual disability
  • Orphanet:777
Tags
Red Red List (low evidence)
AKAP9
1 review
1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • ClinGen
  • Expert Review Red
  • Other
Phenotypes
  • Long Qt Syndrome 11
  • OMIM:611820
  • Orphanet:101016
Tags
Red Red List (low evidence)
CHD1L
1 review
1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • ClinGen
  • Expert Review Red
  • Other
Phenotypes
  • Renal or urinary tract malformation (CAKUT)
  • ORPHA93545
Tags
Red Red List (low evidence)
CRYM
1 review
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • ClinGen
  • Expert Review Red
Phenotypes
  • autosomal dominant nonsyndromic deafness 40
Tags
Red Red List (low evidence)
MYO9A
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • ClinGen
  • Expert Review Red
  • Other
Phenotypes
  • Arthrogryposis
  • OrphaNet: ORPHA109007
Tags
Red Red List (low evidence)
NHP2
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • ClinGen
  • Expert Review Red
Phenotypes
  • Dyskeratosis Congenita
  • OrphaNet ORPHA1775
  • OMIM 613987
Tags
Red Red List (low evidence)
PSD3
1 review
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • ClinGen
  • Expert Review Red
Phenotypes
  • Antecubital pterygium syndrome
Tags
Red Red List (low evidence)
RAD51D
1 review
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • ClinGen
  • Expert Review Red
Phenotypes
  • Hereditary breast cancer
  • OrphaNet ORPHA227535
  • OMIM 614291
Tags
Red Red List (low evidence)
SCN4B
1 review
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • ClinGen
  • Expert Review Red
Phenotypes
  • Long QT Syndrome
  • OrphaNet ORPHA768
  • OMIM 611819
Tags
Red Red List (low evidence)
TMPO
1 review
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • ClinGen
  • Expert Review Red
Phenotypes
  • Dilated Cardiomyopathy
Tags
Red Red List (low evidence)
VPS8
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • ClinGen
  • Expert Review Red
Phenotypes
  • Arthrogryposis
  • OrphaNet ORPHA1037
  • OMIM108120
Tags

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