KLHL13

kelch like family member 13
OMIM: 300655, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels

Red KLHL13 in Mendeliome


Version 1.1891

review X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Red
  • Expert Review
  • Royal Melbourne Hospital
Phenotypes
  • HMSN

Red KLHL13 in Hereditary Neuropathy_CMT - isolated


Level 2: Neurology and neurodevelopmental disorders
Version 1.48

Component of the following Super Panels:

  • Hereditary Neuropathy_CMT_IsolatedAndComplex
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions
  • review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert Review Red
    • Expert Review
    • Expert Review Red
    • Royal Melbourne Hospital
    Phenotypes
    • HMSN