CCDC82

coiled-coil domain containing 82
Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Green CCDC82 in Mendeliome


Version 1.1891

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Neurodevelopmental disorder, MONDO:0700092, CCDC82-related

Green CCDC82 in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 0.6063

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Neurodevelopmental disorder, MONDO:0700092, CCDC82-related

Green CCDC82 in Hereditary Spastic Paraplegia - paediatric


Level 2: Neurology and neurodevelopmental disorders
Version 1.76

Component of the following Super Panels:

  • Hereditary Spastic Paraplegia Superpanel
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Neurodevelopmental disorder, MONDO:0700092, CCDC82-related