XRCC1

X-ray repair cross complementing 1
OMIM: 194360, ClinGen, DECIPHER

2 panels

Panel Reviews Mode of inheritance Details
2 panels

Green XRCC1 in Ataxia - adult onset


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • ocular motor apraxia, axonal neuropathy, and progressive cerebellar ataxia
  • Autosomal recessive spinocerebellar ataxia 26, 617633

Green XRCC1 in Hereditary Neuropathy - complex


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Spinocerebellar ataxia, autosomal recessive 26 MIM#617633