CHMP3

charged multivesicular body protein 3
OMIM: 610052, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Amber CHMP3 in Mendeliome


Version 1.1891

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Hereditary spastic paraplegia (MONDO:0019064), CHMP3-related

Amber CHMP3 in Regression


Level 2: Neurology and neurodevelopmental disorders
Version 0.556

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Hereditary spastic paraplegia (MONDO:0019064), CHMP3-related

Amber CHMP3 in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 0.6063

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Hereditary spastic paraplegia (MONDO:0019064), CHMP3-related

Amber CHMP3 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 Amber
    • Literature
    Phenotypes
    • Hereditary spastic paraplegia (MONDO:0019064), CHMP3-related