Eye Anterior Segment Abnormalities
Gene: GJA8EnsemblGeneIds (GRCh38): ENSG00000121634
EnsemblGeneIds (GRCh37): ENSG00000121634
OMIM: 600897, Gene2Phenotype
GJA8 is in 5 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
At least 7 individuals reported with microphthalmia as well as cataract and a range of other ocular anomalies including anterior segment dysgenesis.
Sources: Expert ReviewCreated: 29 Dec 2020, 5:36 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Cataract 1, multiple types, MIM# 116200; Microphthalmia; Anterior segment dysgenesis
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Expert Review
- Phenotypes
-
- Cataract 1, multiple types, MIM# 116200
- Microphthalmia
- Anterior segment dysgenesis
- OMIM
- 600897
- Clinvar variants
- Variants in GJA8
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: gja8 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: gja8 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: GJA8 was added gene: GJA8 was added to Eye Anterior Segment Abnormalities. Sources: Expert Review Mode of inheritance for gene: GJA8 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: GJA8 were set to 30498267; 29464339; 32499604 Phenotypes for gene: GJA8 were set to Cataract 1, multiple types, MIM# 116200; Microphthalmia; Anterior segment dysgenesis Review for gene: GJA8 was set to GREEN