PanelApp (test)
  1. Genes and Genomic Entities
  2. DCAF8

DCAF8

DDB1 and CUL4 associated factor 8
OMIM: 615820, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels

Amber DCAF8 in Mendeliome


Version 1.1902

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • Giant axonal neuropathy 2, autosomal dominant MIM#610100

Amber DCAF8 in Hereditary Neuropathy - complex


Level 2: Neurology and neurodevelopmental disorders
Version 1.14

Component of the following Super Panels:

  • Hereditary Neuropathy_CMT_IsolatedAndComplex
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions

    		•  review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • Royal Melbourne Hospital
    Phenotypes
    • ?Giant axonal neuropathy 2, autosomal dominant, 610100
    • HMSN