CTSC

PanelMode of inheritanceDetails
4 panels
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R98
Signed-off version 2.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Haim-Munk syndrome 245010, Papillon-Lefevre syndrome 245000, Periodontitis 1, juvenile 170650
R-numbers: R166
Signed-off version 1.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Papillon-Lefvre syndrome
R-numbers: R15
Signed-off version 2.1
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
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R104
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Haim-Munk syndrome 245010,, Haim-Munk syndrome 245010