Primary Ovarian Insufficiency_Premature Ovarian Failure

Gene: XRCC4

Red List (low evidence)

XRCC4 (X-ray repair cross complementing 4)
EnsemblGeneIds (GRCh38): ENSG00000152422
EnsemblGeneIds (GRCh37): ENSG00000152422
OMIM: 194363, Gene2Phenotype
XRCC4 is in 11 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

Red List (low evidence)

A single female case with a homozygous variant has been reported with hypogonadism as a feature of the condition.
Sources: Literature
Created: 6 Dec 2021, 4:45 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Short stature, microcephaly, and endocrine dysfunction MIM#616541

Publications

History Filter Activity

6 Dec 2021, Gel status: 1

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: xrcc4 has been classified as Red List (Low Evidence).

6 Dec 2021, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

gene: XRCC4 was added gene: XRCC4 was added to Primary Ovarian Insufficiency_Premature Ovarian Failure. Sources: Literature Mode of inheritance for gene: XRCC4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: XRCC4 were set to 25742519; 34794894 Phenotypes for gene: XRCC4 were set to Short stature, microcephaly, and endocrine dysfunction MIM#616541 Review for gene: XRCC4 was set to RED