Genomics England
GMS Panels
Panels
Genes and Entities

TMEM63C

transmembrane protein 63C
PanelMode of inheritanceDetails
3 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 8.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
TMEM63C-associated hereditary spastic paraplegia
Green
in Hereditary spastic paraplegia, childhood onset
R-numbers: R61
Signed-off version 9.7
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spastic paraplegia 87, autosomal recessive, OMIM:619966
Green
in Intellectual disability
Component of the following Super Panels:
  • - Hypotonic infant
  • - Leukodystrophy, childhood onset
  • - Paediatric disorders
Signed-off version 11.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spastic paraplegia 87, autosomal recessive, OMIM:619966