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  2. Primary Ovarian Insufficiency_Premature Ovarian Failure
  3. IGSF10
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Primary Ovarian Insufficiency_Premature Ovarian Failure

Gene: IGSF10

Amber List (moderate evidence)
IGSF10 (immunoglobulin superfamily member 10)
EnsemblGeneIds (GRCh38): ENSG00000152580
EnsemblGeneIds (GRCh37): ENSG00000152580
OMIM: 617351, Gene2Phenotype
IGSF10 is in 3 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

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: 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

Created: 2 Oct 2020, 6:24 a.m.

Panel version: 0.37

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • delayed puberty
  • hypogonadotropic hypogonadism
OMIM
617351
Clinvar variants
Variants in IGSF10
Penetrance
None
Publications
Panels with this gene

History Filter Activity

2 Oct 2020, Gel status: 2

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

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

2 Oct 2020, Gel status: 2

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

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

2 Oct 2020, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

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