TMEM63C

transmembrane protein 63C
PanelMode of inheritanceDetails
3 panels
R-numbers: R61
Signed-off version 9.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spastic paraplegia 87, autosomal recessive, OMIM:619966
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 7.0
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 10.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spastic paraplegia 87, autosomal recessive, OMIM:619966