Anophthalmia_Microphthalmia_Coloboma
Gene: GJA8

GJA8 (gap junction protein alpha 8)
EnsemblGeneIds (GRCh38): ENSG00000121634
EnsemblGeneIds (GRCh37): ENSG00000121634
OMIM: 600897, Gene2Phenotype
GJA8 is in 5 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

At least 7 individuals reported with microphthalmia as well as cataract and a range of other ocular anomalies. Mouse model has microphthalmia and cataract.
Created: 28 Dec 2020, 8:55 p.m. | Last Modified: 28 Dec 2020, 8:55 p.m.

Panel Version: 0.182

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Cataract 1, multiple types, MIM# 116200; Microphthalmia

Publications

Created: 28 Dec 2020, 8:55 p.m.
Last Modified: 28 Dec 2020, 8:55 p.m.
Panel version: 0.182

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Green
Victorian Clinical Genetics Services

Phenotypes

Cataract 1, multiple types, MIM# 116200
Microphthalmia

OMIM

600897

Clinvar variants

Variants in GJA8

Penetrance

None

Publications

Panels with this gene