Genomics England
GMS Panels
Panels
Genes and Entities

CTSC

cathepsin C
OMIM: 602365
PanelMode of inheritanceDetails
4 panels
Green
in Likely inborn error of metabolism
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R98
Signed-off version 7.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Haim-Munk syndrome 245010, Papillon-Lefevre syndrome 245000, Periodontitis 1, juvenile 170650
Green
in Palmoplantar keratodermas
R-numbers: R166
Signed-off version 3.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Papillon-Lefvre syndrome
Green
in Primary immunodeficiency or monogenic inflammatory bowel disease
R-numbers: R15
Signed-off version 7.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Papillon-Lefevre syndrome, 245000, Periodontitis, palmoplantar hyperkeratosis in some patients, Congenital defects of phagocyte number or function, Severe periodontitis, palmoplantar keratoderma, Haim-Munk syndrome, 245010
Green
in Skeletal dysplasia
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R104
Signed-off version 7.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Haim-Munk syndrome 245010,, Haim-Munk syndrome 245010