Primary Ovarian Insufficiency_Premature Ovarian Failure

Gene: INSL3

Amber List (moderate evidence)

INSL3 (insulin like 3)
EnsemblGeneIds (GRCh38): ENSG00000248099
EnsemblGeneIds (GRCh37): ENSG00000248099
OMIM: 146738, Gene2Phenotype
INSL3 is in 3 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

I don't know

A single case with POI with a homozygous missense variant (p.Val18Met, 3 homozygotes in gnomAD v2.1). Additionally, female null mouse have impaired fertility associated with deregulation of the oestrous cycle
Sources: Literature
Created: 29 Nov 2021, 4:51 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Primary ovarian insufficiency

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Primary ovarian insufficiency
OMIM
146738
Clinvar variants
Variants in INSL3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

29 Nov 2021, Gel status: 2

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: insl3 has been classified as Amber List (Moderate Evidence).

29 Nov 2021, Gel status: 2

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: insl3 has been classified as Amber List (Moderate Evidence).

29 Nov 2021, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

gene: INSL3 was added gene: INSL3 was added to Primary Ovarian Insufficiency_Premature Ovarian Failure. Sources: Literature Mode of inheritance for gene: INSL3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: INSL3 were set to 34794894; 33095795; 10391220; 30204868 Phenotypes for gene: INSL3 were set to Primary ovarian insufficiency Review for gene: INSL3 was set to AMBER