Structural eye disease
Gene: GJA3

GJA3 (gap junction protein alpha 3)
EnsemblGeneIds (GRCh38): ENSG00000121743
EnsemblGeneIds (GRCh37): ENSG00000121743
OMIM: 121015, Gene2Phenotype
GJA3 is in 5 panels

2 reviews

Nicola Ragge (Birmingham Women's and Children's NHS Foundation Hospital Trust)

Red List (low evidence)

RH 1. Genetic investigation of ocular developmental genes in 52 patients with anophthalmia/microphthalmia. Vidya et al Ophthalmic Genet. 2018 Jun;39(3):344-352. One family with two affected sibs (bil microphthalmia plus other ocular features), both carrying heterozygous missense variant. Mother (also bil. microphthalmia) deceased so could not be tested, variant not present in unaffected father. Missense is predicted damaging, they state it is novel but list a MAF of 0.029
Created: 19 Jun 2019, 3:32 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Cataract 14, multiple types; 601885

Created: 19 Jun 2019, 3:32 p.m.

Panel version: 0.76

Ivone Leong (Genomics England Curator)

Red List (low evidence)

Submitted on behalf of Professor Nicola Ragge (Wessex and West Midlands GLH). RH 1. Genetic investigation of ocular developmental genes in 52 patients with anophthalmia/microphthalmia. Vidya et al Ophthalmic Genet. 2018 Jun;39(3):344-352. One family with two affected sibs (bil microphthalmia plus other ocular features), both carrying heterozygous missense variant. Mother (also bil. microphthalmia) deceased so could not be tested, variant not present in unaffected father. Missense is predicted damaging, they state it is novel but list a MAF of 0.029
Created: 17 Apr 2019, 3:31 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Cataract 14, multiple types; 601885

Variants in this GENE are reported as part of current diagnostic practice

Created: 17 Apr 2019, 3:31 p.m.

Panel version: 0.49

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

NHS GMS

Phenotypes

Cataract 14, multiple types, 601885

OMIM

121015

Clinvar variants

Variants in GJA3

Penetrance

None

Panels with this gene

History Filter Activity

17 Apr 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Ivone Leong (Genomics England Curator)

gene: GJA3 was added gene: GJA3 was added to Structural eye disease. Sources: NHS GMS Mode of inheritance for gene: GJA3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: GJA3 were set to Cataract 14, multiple types, 601885

Structural eye disease Gene: GJA3