Structural eye disease
Gene: GJA1
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
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
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
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
Tag Q3_21_MOI was removed from gene: GJA1.
Mode of inheritance for gene GJA1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: GJA1 were set to 15637728; 25976645; 21273537; 30628995; 24508941; 16816024; 29902798
Publications for gene: GJA1 were set to 15637728; 25976645; 21273537; 30628995; 24508941
Tag Q3_21_MOI tag was added to gene: GJA1.
Mode of inheritance for gene: GJA1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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
Gene: gja1 has been classified as Green List (High Evidence).
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
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