Hypogonadotropic hypogonadism idiopathic

Gene: IGSF10

Amber List (moderate evidence)

IGSF10 (immunoglobulin superfamily member 10)
EnsemblGeneIds (GRCh38): ENSG00000152580
EnsemblGeneIds (GRCh37): ENSG00000152580
OMIM: 617351, Gene2Phenotype
IGSF10 is in 1 panel

2 reviews

Ivone Leong (Genomics England Curator)

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

Zornitza Stark (Australian Genomics)

I don't know

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: Literature
Created: 5 Oct 2020, 9:24 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
delayed puberty; hypogonadotropic hypogonadism; primary ovary insufficiency

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • delayed puberty
  • hypogonadotropic hypogonadism
  • primary ovary insufficiency
Tags
watchlist
OMIM
617351
Clinvar variants
Variants in IGSF10
Penetrance
None
Publications
Panels with this gene

History Filter Activity

23 Mar 2021, Gel status: 2

Added Tag

Ivone Leong (Genomics England Curator)

Tag watchlist tag was added to gene: IGSF10.

23 Mar 2021, Gel status: 2

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: igsf10 has been classified as Amber List (Moderate Evidence).

5 Oct 2020, Gel status: 0

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

Zornitza Stark (Australian Genomics)

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