Primary Ovarian Insufficiency_Premature Ovarian Failure
Gene: XRCC2

XRCC2 (X-ray repair cross complementing 2)
EnsemblGeneIds (GRCh38): ENSG00000196584
EnsemblGeneIds (GRCh37): ENSG00000196584
OMIM: 600375, Gene2Phenotype
XRCC2 is in 5 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

One individual reported with POF and bi-allelic variants in her gene. Her brother had spermatogenic failure, and one additional family reported with spermatogenic failure.
Sources: Expert list
Created: 16 Jan 2021, 12:28 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Premature ovarian failure 17, MIM# 619146; Spermatogenic failure, MIM# 619145

Publications

Created: 16 Jan 2021, 12:28 a.m.

Panel version: 0.186

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Red
Expert list

Phenotypes

Premature ovarian failure 17, MIM# 619146
Spermatogenic failure, MIM# 619145

OMIM

600375

Clinvar variants

Variants in XRCC2

Penetrance

None

Publications

Panels with this gene

History Filter Activity

16 Jan 2021, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: xrcc2 has been classified as Red List (Low Evidence).

16 Jan 2021, Gel status: 1

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