TMEM63C

transmembrane protein 63C
Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels
Green TMEM63C in Hereditary spastic paraplegia, childhood onset


Level 2: Neurology
Version 9.11
Latest signed off version: v9.7 (12 Aug 2026)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • Literature
Phenotypes
  • Spastic paraplegia 87, autosomal recessive, OMIM:619966
Green TMEM63C in DDG2P


Version 8.1
Latest signed off version: v8.0 (12 Aug 2026)

Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • TMEM63C-associated hereditary spastic paraplegia
    Green TMEM63C in Intellectual disability


    Level 2: Developmental disorders
    Version 11.13
    Latest signed off version: v11.0 (12 Aug 2026)

    Component of the following Super Panels:

  • Hypotonic infant
  • Leukodystrophy, childhood onset
  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    • Literature
    Phenotypes
    • Spastic paraplegia 87, autosomal recessive, OMIM:619966