Hypogonadotropic hypogonadism idiopathicGene: IGSF10
Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is not associated with a phenotype in OMIM or Gene2Phenotype. There is currently not enough evidence to support a gene-disease association so therefore this gene has been given an Amber rating.
Created: 23 Mar 2021, 4:24 p.m. | Last Modified: 23 Mar 2021, 4:24 p.m.
Panel Version: 1.16
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.
Created: 5 Oct 2020, 9:24 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
delayed puberty; hypogonadotropic hypogonadism; primary ovary insufficiency
Tag watchlist tag was added to gene: IGSF10.
Gene: igsf10 has been classified as Amber List (Moderate Evidence).
gene: IGSF10 was added gene: IGSF10 was added to Hypogonadotropic hypogonadism idiopathic. Sources: Literature Mode of inheritance for gene: IGSF10 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: IGSF10 were set to 27137492; 31042289 Phenotypes for gene: IGSF10 were set to delayed puberty; hypogonadotropic hypogonadism; primary ovary insufficiency Review for gene: IGSF10 was set to AMBER