Primary Ovarian Insufficiency_Premature Ovarian Failure
Gene: IGSF10
PMID: 27137492 - 4 Finnish families segregating p.Glu161Lys, but Finnish MAF in ExAC is 2%. Another six additional families with a possible missense, but variants are seen in ExAC suggesting incomplete penetrance. Supporting in vitro functional assays and zebrafish model. PMID: 31042289 - 2 unrelated consanguineous families with homozygous variants and family with a heterozygous frameshift and apparent incomplete penetrance.
Sources: LiteratureCreated: 2 Oct 2020, 6:24 a.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
delayed puberty; hypogonadotropic hypogonadism; primary ovary insufficiency
Publications
Gene: igsf10 has been classified as Amber List (Moderate Evidence).
Gene: igsf10 has been classified as Amber List (Moderate Evidence).
gene: IGSF10 was added gene: IGSF10 was added to Amenorrhoea. Sources: Literature Mode of inheritance for gene: IGSF10 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: IGSF10 were set to 27137492; 31042289 Phenotypes for gene: IGSF10 were set to delayed puberty; hypogonadotropic hypogonadism Review for gene: IGSF10 was set to AMBER