CTSC

cathepsin C
OMIM: 602365, Gene2Phenotype

9 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 9 panels
Green CTSC in Palmoplantar keratoderma and erythrokeratodermas Level 3: Keratodermas Level 2: Dermatological disorders Version 1.31	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Papillon-Lefevre syndrome Haim-Munk syndrome Periodontitis 1, juvenile
Green CTSC in COVID-19 research Level 2: Viral research Version 1.142	review	BIALLELIC, autosomal or pseudoautosomal	Sources IUIS Classification February 2018 London North GLH NHS GMS GRID V2.0 Victorian Clinical Genetics Services North West GLH ESID Registry 20171117 Expert Review Green NHS GMS North West GLH London North GLH Expert Review Green IUIS Classification February 2018 Victorian Clinical Genetics Services ESID Registry 20171117 GRID V2.0 Phenotypes Severe periodontitis Periodontitis, palmoplantar hyperkeratosis in some patients Congenital defects of phagocyte number or function Haim-Munk syndrome, 245010 palmoplantar keratoderma Papillon-Lefevre syndrome, 245000
Green CTSC in Palmoplantar keratodermas Version 3.25 Latest signed off version: v3.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Papillon-Lefvre syndrome
Green CTSC in Primary immunodeficiency or monogenic inflammatory bowel disease Version 5.3 Latest signed off version: v5.0 (1 May 2024)	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS North West GLH London North GLH Expert Review Green IUIS Classification February 2018 Victorian Clinical Genetics Services ESID Registry 20171117 GRID V2.0 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 CTSC in Skeletal dysplasia Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 5.3 Latest signed off version: v5.0 (1 May 2024) Component of the following Super Panels: Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Radboud University Medical Center, Nijmegen Illumina TruGenome Clinical Sequencing Services Expert list Phenotypes Haim-Munk syndrome 245010, Haim-Munk syndrome 245010
Green CTSC in Undiagnosed metabolic disorders Level 3: Specific metabolic abnormalities Level 2: Metabolic disorders Version 1.617	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Haim-Munk syndrome 245010 Papillon-Lefevre syndrome 245000 Periodontitis 1, juvenile 170650
Green CTSC in Likely inborn error of metabolism - targeted testing not possible Version 5.3 Latest signed off version: v5.0 (1 May 2024) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders Unexplained death in infancy and sudden unexplained death in childhood	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Haim-Munk syndrome 245010 Papillon-Lefevre syndrome 245000 Periodontitis 1, juvenile 170650
Red CTSC in Childhood onset dystonia, chorea or related movement disorder Version 4.3 Latest signed off version: v4.0 (1 May 2024)	review	Not set	Sources Expert Review Red London North GLH
Green CTSC in Severe Paediatric Disorders Version 1.184	review	BIALLELIC, autosomal or pseudoautosomal	Sources Next Generation Children Project Expert Review Green Expert list Phenotypes Papillon-Lefevre syndrome, 245000 Periodontitis 1, juvenile, 170650 Haim-Munk syndrome, 245010