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| Primary Ovarian Insufficiency_Premature Ovarian Failure v0.227 | GJA4 |
Bryony Thompson 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 Added comment: 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 |
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