Structural eye disease
Gene: GJA1EnsemblGeneIds (GRCh38): ENSG00000152661
EnsemblGeneIds (GRCh37): ENSG00000152661
OMIM: 121014, Gene2Phenotype
GJA1 is in 25 panels
4 reviews
Achchuthan Shanmugasundram (Genomics England Curator)
The mode of inheritance of this gene has been updated to 'BOTH monoallelic and biallelic, autosomal or pseudoautosomal' following NHS Genomic Medicine Service approval.Created: 30 Jan 2023, 3:59 p.m. | Last Modified: 30 Jan 2023, 3:59 p.m.
Panel Version: 2.3
Arina Puzriakova (Genomics England Curator)
Comment on mode of inheritance: MOI should be updated from 'monoallelic' only to 'both mono- and biallelic' at the next GMS panel update.
Ocular abnormalities including microphthalmia and microcornea are reported in GJA1-related oculodentodigital dysplasia, which can be dominantly (MIM:164200) or recessively (MIM:257850) inherited.Created: 31 Aug 2021, 2:49 p.m. | Last Modified: 31 Aug 2021, 2:49 p.m.
Panel Version: 1.78
Nicola Ragge (Birmingham Women's and Children's NHS Foundation Hospital Trust)
Huang: segregating in large pedigree with glaucoma/microcornea; Vitiello, segregating in large pedigree with ODDD and microcornea; Park segregating in pedigree with microcornea and microphthalmiaCreated: 19 Jun 2019, 3:32 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Oculodentodigital dysplasia; open angle glaucoma (OAG) and microcornea
Publications
Mode of pathogenicity
Other - please provide details in the comments
Ivone Leong (Genomics England Curator)
Promoted from amber to green as there is sufficient evidence.Created: 24 Apr 2019, 2:37 p.m.
Submitted on behalf of Professor Nicola Ragge (Wessex and West Midlands GLH). Huang: segregating in large pedigree with glaucoma/microcornea; Vitiello, segregating in large pedigree with ODDD and microcornea; Park segregating in pedigree with microcornea and microphthalmiaCreated: 17 Apr 2019, 3:30 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Oculodentodigital dysplasia; open angle glaucoma (OAG) and microcornea
Publications
Mode of pathogenicity
Other - please provide details in the comments
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
- NHS GMS
- Phenotypes
-
- Oculodentodigital dysplasia, OMIM:164200
- Oculodentodigital dysplasia, autosomal recessive, OMIM:257850
- OMIM
- 121014
- Clinvar variants
- Variants in GJA1
- Penetrance
- None
- Publications
- Mode of Pathogenicity
- Other - please provide details in the comments
- Panels with this gene
-
- White matter disorders and cerebral calcification - narrow panel
- Palmoplantar keratodermas
- Rare genetic inflammatory skin disorders
- Familial non syndromic congenital heart disease
- Limb disorders
- DDG2P
- Intellectual disability
- Adult onset leukodystrophy
- Inherited white matter disorders
- Corneal abnormalities
- Pigmentary skin disorders
- Clefting
- Bilateral congenital or childhood onset cataracts
- Palmoplantar keratoderma and erythrokeratodermas
- Ichthyosis and erythrokeratoderma
- Familial cicatricial alopecia
- Structural eye disease
- Mosaic skin disorders - deep sequencing
- Monogenic hearing loss
- Adult onset hereditary spastic paraplegia
- Fetal anomalies
- Glaucoma (developmental)
- Skeletal dysplasia
- Primary lymphoedema
- Childhood onset hereditary spastic paraplegia
History Filter Activity
Removed Tag
Achchuthan Shanmugasundram (Genomics England Curator)Tag Q3_21_MOI was removed from gene: GJA1.
Set mode of inheritance
Achchuthan Shanmugasundram (Genomics England Curator)Mode of inheritance for gene GJA1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Set publications
Arina Puzriakova (Genomics England Curator)Publications for gene: GJA1 were set to 15637728; 25976645; 21273537; 30628995; 24508941; 16816024; 29902798
Set publications
Arina Puzriakova (Genomics England Curator)Publications for gene: GJA1 were set to 15637728; 25976645; 21273537; 30628995; 24508941
Added Tag
Arina Puzriakova (Genomics England Curator)Tag Q3_21_MOI tag was added to gene: GJA1.
Set mode of inheritance
Arina Puzriakova (Genomics England Curator)Mode of inheritance for gene: GJA1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: GJA1 were changed from open angle glaucoma (OAG) and microcornea; Oculodentodigital dysplasia to Oculodentodigital dysplasia, OMIM:164200; Oculodentodigital dysplasia, autosomal recessive, OMIM:257850
Entity classified by Genomics England curator
Ivone Leong (Genomics England Curator)Gene: gja1 has been classified as Green List (High Evidence).
Added New Source, Set mode of pathogenicity, Set Phenotypes, Set publications
Ivone Leong (Genomics England Curator)Source NHS GMS was added to GJA1. Mode of pathogenicity for gene GJA1 was changed from to Other - please provide details in the comments Added phenotypes open angle glaucoma (OAG) and microcornea; Oculodentodigital dysplasia for gene: GJA1 Publications for gene GJA1 were changed from 21273537; 25976645 to 15637728; 25976645; 21273537; 30628995; 24508941
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Ellen McDonagh (Genomics England Curator)gene: GJA1 was added gene: GJA1 was added to Structural eye disease. Sources: Expert Review Amber Mode of inheritance for gene: GJA1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: GJA1 were set to 21273537; 25976645 Phenotypes for gene: GJA1 were set to Oculodentodigital dysplasia; open angle glaucoma (OAG) and microcornea