Primary Ovarian Insufficiency_Premature Ovarian Failure
Gene: HELQEnsemblGeneIds (GRCh38): ENSG00000163312
EnsemblGeneIds (GRCh37): ENSG00000163312
OMIM: 606769, Gene2Phenotype
HELQ is in 2 panels
1 review
Bryony Thompson (Royal Melbourne Hospital)
A single POI heterozygous for a frameshift variant (c.3095delA;p.Tyr1032Serfs*4), and a null mouse model (both homozygous and heterozygous) with subfertility and germ cell attrition.
Sources: LiteratureCreated: 5 Dec 2021, 11:55 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Primary ovarian insufficiency
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Amber
- Literature
- Phenotypes
-
- Primary ovarian insufficiency
- OMIM
- 606769
- Clinvar variants
- Variants in HELQ
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: helq has been classified as Amber List (Moderate Evidence).
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: helq 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: HELQ was added gene: HELQ was added to Primary Ovarian Insufficiency_Premature Ovarian Failure. Sources: Literature Mode of inheritance for gene: HELQ was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: HELQ were set to 34794894; 24005329; 33095795 Phenotypes for gene: HELQ were set to Primary ovarian insufficiency Review for gene: HELQ was set to AMBER