PanelApp
  1. Genes and Genomic Entities
  2. CFAP276

CFAP276

cilia and flagella associated protein 276
OMIM: 618682, ClinGen, DECIPHER

2 panels

Panel Reviews Mode of inheritance Details
2 panels

Amber CFAP276 in Mendeliome


Version 2.49

3 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Charcot-Marie-Tooth disease, intermediate or demyelinating, MONDO:0015626, C1orf194-related

Amber CFAP276 in Hereditary Neuropathy


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

Component of the following Super Panels:

  • Neuromuscular Superpanel
  • Progressive Neurological Conditions

    		•  3 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Literature
    • Literature
    • Expert Review Amber
    • Expert Review Amber
    • Literature
    • Literature
    Phenotypes
    • Charcot-Marie-Tooth disease, intermediate or demyelinating