TMEM63C

transmembrane protein 63C
Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels
Green TMEM63C in Childhood onset hereditary spastic paraplegia


Level 2: Neurology
Version 8.44
Latest signed off version: v8.0 (30 Apr 2025)

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 6.447
Latest signed off version: v6.0 (30 Apr 2025)

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 9.370
    Latest signed off version: v9.0 (30 Apr 2025)

    Component of the following Super Panels:

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