Miscellaneous Metabolic Disorders

Gene: CTSC

Green List (high evidence)

CTSC (cathepsin C)
EnsemblGeneIds (GRCh38): ENSG00000109861
EnsemblGeneIds (GRCh37): ENSG00000109861
OMIM: 602365, Gene2Phenotype
CTSC is in 10 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

Well-established gene-disease associations (see OMIM entry). HMS and PLS are classified as metabolic disorders by the NIH GARD (https://rarediseases.info.nih.gov/diseases/diseases-by-category/14/metabolic-disorders).
Sources: NHS GMS
Created: 3 Feb 2021, 12:39 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Haim-Munk syndrome MIM#245010; Papillon-Lefevre syndrome MIM#245000; other lysosomal disorder

Publications

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Haim-Munk syndrome MIM#245010
  • Papillon-Lefevre syndrome MIM#245000
  • other lysosomal disorder
OMIM
602365
Clinvar variants
Variants in CTSC
Penetrance
None
Publications
Panels with this gene

History Filter Activity

3 Feb 2021, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: ctsc has been classified as Green List (High Evidence).

3 Feb 2021, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: ctsc has been classified as Green List (High Evidence).

3 Feb 2021, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

gene: CTSC was added gene: CTSC was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS Mode of inheritance for gene: CTSC was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CTSC were set to 10581027 Phenotypes for gene: CTSC were set to Haim-Munk syndrome MIM#245010; Papillon-Lefevre syndrome MIM#245000; other lysosomal disorder Review for gene: CTSC was set to GREEN gene: CTSC was marked as current diagnostic