Corneal abnormalities
Gene: GJA1EnsemblGeneIds (GRCh38): ENSG00000152661
EnsemblGeneIds (GRCh37): ENSG00000152661
OMIM: 121014, Gene2Phenotype
GJA1 is in 25 panels
2 reviews
Ellen McDonagh (Genomics England Curator)
Comment on list classification: Expert review green, and more than 3 families/cases reported.Created: 20 Feb 2017, 5:41 p.m.
Chris Campbell (NHS)
Recessive disease considered mre severe than the dominant form of the diseaseCreated: 7 Feb 2017, 5:35 p.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Oculodentodigital dysplasia
Publications
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BOTH monoallelic and biallelic, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- GDL Corneal Abnormalities panel
- Phenotypes
-
- Oculodentodigital dysplasia, OMIM:164200
- Oculodentodigital dysplasia, autosomal recessive, OMIM:257850
- OMIM
- 121014
- Clinvar variants
- Variants in GJA1
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Bilateral congenital or childhood onset cataracts
- Adult onset hereditary spastic paraplegia
- White matter disorders and cerebral calcification - narrow panel
- Skeletal dysplasia
- Glaucoma (developmental)
- Limb disorders
- Structural eye disease
- Rare genetic inflammatory skin disorders
- Fetal anomalies
- Palmoplantar keratodermas
- Clefting
- Pigmentary skin disorders
- Familial non syndromic congenital heart disease
- Primary lymphoedema
- Inherited white matter disorders
- Corneal abnormalities
- Mosaic skin disorders - deep sequencing
- Adult onset leukodystrophy
- Palmoplantar keratoderma and erythrokeratodermas
- Intellectual disability
- Monogenic hearing loss
- Familial cicatricial alopecia
- Childhood onset hereditary spastic paraplegia
- Ichthyosis and erythrokeratoderma
- DDG2P
History Filter Activity
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: GJA1 were changed from Oculodentodigital dysplasia 164200; Oculodentodigital dysplasia, autosomal recessive 257850 to Oculodentodigital dysplasia, OMIM:164200; Oculodentodigital dysplasia, autosomal recessive, OMIM:257850
panel promoted to version 1
Chris Campbell (GEL)09/03/2017 Revised and approved to Version 1.0 after expert and internal review.
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for GJA1 were set to Oculodentodigital dysplasia 164200;Oculodentodigital dysplasia, autosomal recessive 257850
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
Set publications
Ellen McDonagh (Genomics England Curator)Publications for GJA1 were set to 12457340; 16816024; 15108203; 15551259; 15637728; 16709485; 17256797;14974090;21670345;23550541
Set publications
Ellen McDonagh (Genomics England Curator)Publications for GJA1 were set to 12457340; 16816024; 15108203; 15551259; 15637728; 16709485;17256797
Set publications
Ellen McDonagh (Genomics England Curator)Publications for GJA1 were set to 12457340; 16816024; 15108203; 15551259; 15637728;16709485
Set publications
Ellen McDonagh (Genomics England Curator)Publications for GJA1 were set to 12457340; 16816024; 15108203; 15551259;15637728
Set publications
Ellen McDonagh (Genomics England Curator)Publications for GJA1 were set to 12457340; 16816024; 15108203;15551259
Set publications
Ellen McDonagh (Genomics England Curator)Publications for GJA1 were set to 12457340; 16816024;15108203
Created
Chris Campbell (NHS)GJA1 was created by Chricampbell
Added New Source
Chris Campbell (NHS)GJA1 was added to Corneal abnormalitiespanel. Sources: GDL Corneal Abnormalities panel