Primary Ovarian Insufficiency_Premature Ovarian Failure

Gene: HELQ

Amber List (moderate evidence)

HELQ (helicase, POLQ like)
EnsemblGeneIds (GRCh38): ENSG00000163312
EnsemblGeneIds (GRCh37): ENSG00000163312
OMIM: 606769, Gene2Phenotype
HELQ is in 2 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

I don't know

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: Literature
Created: 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

5 Dec 2021, Gel status: 2

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

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

5 Dec 2021, Gel status: 2

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

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

5 Dec 2021, Gel status: 1

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