TMEM63C

transmembrane protein 63C
PanelMode of inheritanceDetails
3 panels
R-numbers: R61
Signed-off version 5.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
hereditary spastic paraplegia, MONDO:0019064
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 4.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
TMEM63C-associated hereditary spastic paraplegia
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 6.13
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
hereditary spastic paraplegia, MONDO:0019064