Genomics England

cathepsin C

Panel	Mode of inheritance	Details
Filter panels4 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 5.6	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 5.3	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 5.3	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Haim-Munk syndrome 245010,, Haim-Munk syndrome 245010