Genes in panel

Neurodegenerative disorders - adult onset

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

0 reviews

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • ocular motor apraxia, axonal neuropathy, and progressive cerebellar ataxia
OMIM
194360
Clinvar variants
Variants in XRCC1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

25 Jan 2019, Gel status: 1

Panel promoted to version 1.0

Louise Daugherty (Genomics England Curator)

Rebecca Foulger: Gene awaiting curator evaluati

18 Dec 2018, Gel status: 1

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

Rebecca Foulger (Genomics England curator)

gene: XRCC1 was added gene: XRCC1 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red Mode of inheritance for gene: XRCC1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: XRCC1 were set to 28002403 Phenotypes for gene: XRCC1 were set to ocular motor apraxia, axonal neuropathy, and progressive cerebellar ataxia