Primary Ovarian Insufficiency_Premature Ovarian Failure
Gene: GJA4

GJA4 (gap junction protein alpha 4)
EnsemblGeneIds (GRCh38): ENSG00000187513
EnsemblGeneIds (GRCh37): ENSG00000187513
OMIM: 121012, Gene2Phenotype
GJA4 is in 3 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

Red List (low evidence)

A heterozygous missense (p.Gly316Ser) was identified in 2 POI cases and shown to have a dominant-negative effect on function. However, there are 768 hets and 10 homozygotes in gnomAD v2.1 which is too common for dominantly inherited disease.
Sources: Literature
Created: 29 Nov 2021, 3:28 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Primary ovarian insufficiency

Publications

Created: 29 Nov 2021, 3:28 a.m.

Panel version: 0.227

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Literature

Phenotypes

Primary ovarian insufficiency

OMIM

121012

Clinvar variants

Variants in GJA4

Penetrance

None

Publications

Panels with this gene

History Filter Activity

29 Nov 2021, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

gene: GJA4 was added gene: GJA4 was added to Primary Ovarian Insufficiency_Premature Ovarian Failure. Sources: Literature Mode of inheritance for gene: GJA4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: GJA4 were set to 34794894; 29207017 Phenotypes for gene: GJA4 were set to Primary ovarian insufficiency Review for gene: GJA4 was set to RED

Primary Ovarian Insufficiency_Premature Ovarian Failure Gene: GJA4