Primary Ovarian Insufficiency_Premature Ovarian Failure
Gene: SPIDR
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Ovarian dysgenesis 9, MIM# 619665
3 POI cases from 2 unrelated families with homozygous nonsense variants, and in vitro functional assays demonstrating both variants alter SPIDR activity in homologous recombination.
Sources: LiteratureCreated: 6 Dec 2021, 4:15 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Primary ovarian insufficiency
Publications
Phenotypes for gene: SPIDR were changed from Primary ovarian insufficiency to Ovarian dysgenesis 9, MIM# 619665
Gene: spidr has been classified as Amber List (Moderate Evidence).
Gene: spidr has been classified as Amber List (Moderate Evidence).
gene: SPIDR was added gene: SPIDR was added to Primary Ovarian Insufficiency_Premature Ovarian Failure. Sources: Literature Mode of inheritance for gene: SPIDR was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SPIDR were set to 34794894; 34697795; 27967308 Phenotypes for gene: SPIDR were set to Primary ovarian insufficiency Review for gene: SPIDR was set to AMBER