Primary Ovarian Insufficiency_Premature Ovarian Failure

Gene: XRCC2

Red List (low evidence)

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

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: XRCC2 was added gene: XRCC2 was added to Primary Ovarian Insufficiency_Premature Ovarian Failure. Sources: Expert list Mode of inheritance for gene: XRCC2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: XRCC2 were set to 30489636; 30042186 Phenotypes for gene: XRCC2 were set to Premature ovarian failure 17, MIM# 619146; Spermatogenic failure, MIM# 619145 Review for gene: XRCC2 was set to RED