CTSC

cathepsin C
OMIM: 602365, ClinGen, DECIPHER

10 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 10 panels
Green CTSC in Mendeliome Version 1.2302	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Victorian Clinical Genetics Services Phenotypes Haim-Munk syndrome MIM#245010 Papillon-Lefevre syndrome MIM#245000 Periodontitis 1, juvenile MIM#170650
Green CTSC in Palmoplantar Keratoderma and Erythrokeratoderma Level 2: Dermatological disorders Version 0.132	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Papillon-Lefevre syndrome (MIM#245000)
Green CTSC in Lysosomal Storage Disorder Level 2: Metabolic conditions Version 1.13 Component of the following Super Panels: Metabolic Disorders Superpanel Progressive Neurological Conditions	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes ectodermal dysplasia syndrome MONDO:0019287 Other disorders of complex molecule degradation
Green CTSC in Phagocyte Defects Level 2: Immunological disorders Version 1.33 Component of the following Super Panels: Immunological disorders_SuperPanel	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes Papillon-Lefevre syndrome, MIM# 245000
Green CTSC in Skeletal dysplasia Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 0.302	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Illumina TruGenome Clinical Sequencing Services Expert Review Green Radboud University Medical Center, Nijmegen NHS GMS Expert list Phenotypes Haim-Munk syndrome 245010, Haim-Munk syndrome 245010
Green CTSC in Ectodermal Dysplasia Level 2: Dermatological disorders Version 0.86	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Other Phenotypes Haim-Munk syndrome MIM#245010 Papillon-Lefevre syndrome MIM#245000
Green CTSC in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 0.109	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Papillon-Lefevre syndrome, 245000 (3)
Green CTSC in Miscellaneous Metabolic Disorders Level 2: Metabolic disorders Version 1.48 Component of the following Super Panels: Metabolic Disorders Superpanel Progressive Neurological Conditions	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Haim-Munk syndrome MIM#245010 Papillon-Lefevre syndrome MIM#245000 other lysosomal disorder
Green CTSC in Prepair 1000+ Level 2: Screening Version 1.1566	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Haim-Munk syndrome MIM#245010 Papillon-Lefevre syndrome MIM#245000
Green CTSC in Prepair 500+ Level 2: Screening Version 1.5	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Papillon-Lefevre syndrome, 245000 (3)