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 2.0

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

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