Research panel - Severe Paediatric Disorders
Gene: GJA1

GJA1 (gap junction protein alpha 1)
EnsemblGeneIds (GRCh38): ENSG00000152661
EnsemblGeneIds (GRCh37): ENSG00000152661
OMIM: 121014, Gene2Phenotype
GJA1 is in 25 panels

1 review

Louise Daugherty (Genomics England Curator)

I don't know

Initial gene list (NGC_genelist-20190823_GREEN_dis_moi_forCuration_20200211.xlsx) collated by Dr Courtney French (University of Cambridge University Hospital NHS Foundation), Dr Karyn Megy (Clinical Feedback Lead, NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation), Dr Alba Sanchis-Juan (NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation) and Lucy Raymond (Professor of Medical Genetics and Neurodevelopment, University of Cambridge University Hospital NHS Foundation). Submitted to the PanelApp resource January 2020 on behalf of the Next Generation Children Project, Addenbrookes' Hospital, Cambridge. Gene Symbol submitted: GJA1; Recommended initial gene rating: Green List (high evidence); Phenotypes: Atrioventricular septal defect 3, 600309 (3) | Craniometaphyseal dysplasia, autosomal recessive, 218400 (3) | Erythrokeratodermia variabilis et progressiva 3, 617525 (3) | Hypoplastic left heart syndrome 1, 241550 (3) | Oculodentodigital dysplasia, 164200 (3) | Oculodentodigital dysplasia, autosomal recessive, 257850 (3) | Palmoplantar keratoderma with congenital alopecia, 104100 (3) | Syndactyly, type III, 186100 (3); Mode of inheritance: Autosomal dominant | Autosomal recessive | Autosomal dominant | Autosomal recessive | Autosomal dominant | Autosomal recessive | Autosomal dominant | Autosomal dominant
Created: 20 Feb 2020, 5:19 p.m. | Last Modified: 20 Feb 2020, 5:19 p.m.

Panel Version: 0.12

Created: 20 Feb 2020, 5:19 p.m.
Last Modified: 20 Feb 2020, 5:19 p.m.
Panel version: 0.12

Details

Mode of Inheritance

BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Sources

Next Generation Children Project
Expert Review Green
Expert list

Phenotypes

Oculodentodigital dysplasia, autosomal recessive, 257850
Syndactyly, type III, 186100
Craniometaphyseal dysplasia, autosomal recessive, 218400
Palmoplantar keratoderma with congenital alopecia, 104100
Atrioventricular septal defect 3, 600309
Erythrokeratodermia variabilis et progressiva 3, 617525
Hypoplastic left heart syndrome 1, 241550
Oculodentodigital dysplasia, 164200

OMIM

121014

Clinvar variants

Variants in GJA1

Penetrance

None

Publications

30847515

Panels with this gene