Primary Ovarian Insufficiency_Premature Ovarian Failure
Gene: INSL3EnsemblGeneIds (GRCh38): ENSG00000248099
EnsemblGeneIds (GRCh37): ENSG00000248099
OMIM: 146738, Gene2Phenotype
INSL3 is in 3 panels
1 review
Bryony Thompson (Royal Melbourne Hospital)
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: LiteratureCreated: 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
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: insl3 has been classified as Amber List (Moderate Evidence).
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: insl3 has been classified as Amber List (Moderate Evidence).
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