Hereditary ataxia

Gene: XRCC1

Red List (low evidence)

XRCC1 (X-ray repair cross complementing 1)
EnsemblGeneIds (GRCh38): ENSG00000073050
EnsemblGeneIds (GRCh37): ENSG00000073050
OMIM: 194360, Gene2Phenotype
XRCC1 is in 6 panels

1 review

Ellen McDonagh (Genomics England Curator)

New publication reporting compound heterozygous variant in the proband, whereas their unaffected sibling was heterozygous for one of the variants. Functional assays and mouse model also supported the association.
Created: 3 Jan 2017, 10:07 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
ocular motor apraxia, axonal neuropathy, and progressive cerebellar ataxia

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
Phenotypes
  • ocular motor apraxia, axonal neuropathy, and progressive cerebellar ataxia
OMIM
194360
Clinvar variants
Variants in XRCC1
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

3 Jan 2017, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

XRCC1 was added to Hereditary ataxiapanel. Sources: Literature

3 Jan 2017, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

XRCC1 was created by ellenmcdonagh