Familial non syndromic congenital heart disease
Gene: GJA1EnsemblGeneIds (GRCh38): ENSG00000152661
EnsemblGeneIds (GRCh37): ENSG00000152661
OMIM: 121014, Gene2Phenotype
GJA1 is in 25 panels
3 reviews
Bernard Keavney (The University of Manchester)
Alice Gardham (Genomics England)
Comment on list classification: Listed on G2P as causing HLH but very limited evidenceCreated: 24 Nov 2016, 12:08 p.m.
Ellen McDonagh (Genomics England Curator)
It is a confirmed DD gene for hypoplastic left heart syndrome.Created: 22 Jul 2016, 8:52 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Details
- Sources
-
- Expert Review Red
- Radboud University Medical Center, Nijmegen
- Illumina TruGenome Clinical Sequencing Services
- Phenotypes
-
- Hypoplastic left heart syndrome 1, OMIM:241550
- Atrioventricular septal defect 3, OMIM:600309
- OMIM
- 121014
- Clinvar variants
- Variants in GJA1
- Penetrance
- Complete
- Panels with this gene
-
- Structural eye disease
- Mosaic skin disorders - deep sequencing
- Monogenic hearing loss
- Adult onset hereditary spastic paraplegia
- Skeletal dysplasia
- Fetal anomalies
- Glaucoma (developmental)
- White matter disorders and cerebral calcification - narrow panel
- Primary lymphoedema
- Childhood onset hereditary spastic paraplegia
- Intellectual disability
- Palmoplantar keratodermas
- Rare genetic inflammatory skin disorders
- Limb disorders
- Familial non syndromic congenital heart disease
- DDG2P
- Adult onset leukodystrophy
- Inherited white matter disorders
- Corneal abnormalities
- Clefting
- Pigmentary skin disorders
- Bilateral congenital or childhood onset cataracts
- Palmoplantar keratoderma and erythrokeratodermas
- Ichthyosis and erythrokeratoderma
- Familial cicatricial alopecia
History Filter Activity
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: GJA1 were changed from Hypoplastic left heart syndrome 1; Hypoplastic Left Heart Syndrome to Hypoplastic left heart syndrome 1, OMIM:241550; Atrioventricular septal defect 3, OMIM:600309
panel promoted to version 1
Alice Gardham (Genomics England)Promoted to version 1 by Alice Gardham on 26th January
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
Added New Source
Ellen McDonagh (Genomics England Curator)GJA1 was added to Familial non syndromic congenital heart diseasepanel. Sources: Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services,Expert Review Red
Created
Ellen McDonagh (Genomics England Curator)GJA1 was created by ellenmcdonagh