PCNA

proliferating cell nuclear antigen
OMIM: 176740, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Amber PCNA in Mendeliome


Version 1.2655

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • ClinGen
Phenotypes
  • hereditary ataxia MONDO:0100309

Amber PCNA in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 1.174

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • ClinGen
Phenotypes
  • hereditary ataxia MONDO:0100309

Amber PCNA in Ataxia - paediatric


Level 2: Neurology and neurodevelopmental disorders
Version 1.38

Component of the following Super Panels:

  • Ataxia_Superpanel
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • ClinGen
    Phenotypes
    • hereditary ataxia MONDO:0100309