CTSC

cathepsin C
OMIM: 602365, Gene2Phenotype

10 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 10 panels
Green CTSC in Mendeliome Version 1.1902	review	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	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 1.11 Component of the following Super Panels: Metabolic Disorders Superpanel Progressive Neurological Conditions	review	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 1.29 Component of the following Super Panels: Immunological disorders_SuperPanel	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 0.285	review	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	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	review	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 1.46 Component of the following Super Panels: Metabolic Disorders Superpanel Progressive Neurological Conditions	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 1.9	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Papillon-Lefevre syndrome, 245000 (3)
Green CTSC in Prepair 500+ Level 2: Screening Version 1.1	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Papillon-Lefevre syndrome, 245000 (3)