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  2. Likely inborn error of metabolism
  3. CTSC
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Likely inborn error of metabolism

Gene: CTSC

Green List (high evidence)
CTSC (cathepsin C)
EnsemblGeneIds (GRCh38): ENSG00000109861
EnsemblGeneIds (GRCh37): ENSG00000109861
OMIM: 602365, Gene2Phenotype
CTSC is in 9 panels

1 review

Sarah Leigh (Genomics England Curator)

Comment on list classification: This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype.
Associated with phenotype in OMIM and not in Gen2Phen. At least 13 variants identified in unrelated cases of Papillon-Lefevre syndrome 245000.
Created: 12 Aug 2019, 2:33 p.m. | Last Modified: 12 Aug 2019, 2:33 p.m.
Panel Version: 1.98
Comment on phenotypes: Papillon-Lef vre syndrome (Other lysosomal disorders, Cathepsin-related disorders);Unexplained skeletal dysplasia
Created: 12 Aug 2019, 2:30 p.m. | Last Modified: 12 Aug 2019, 2:30 p.m.
Panel Version: 1.97
Created: 12 Aug 2019, 2:30 p.m.
Last Modified: 12 Aug 2019, 2:30 p.m.
Panel version: 1.97

Details

Mode of Inheritance
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
OMIM
602365
Clinvar variants
Variants in CTSC
Penetrance
None
Publications
Panels with this gene

History Filter Activity

12 Aug 2019, Gel status: 3

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

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

12 Aug 2019, Gel status: 2

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: CTSC were changed from Papillon-Lef vre syndrome (Other lysosomal disorders, Cathepsin-related disorders); Unexplained skeletal dysplasia to Haim-Munk syndrome 245010; Papillon-Lefevre syndrome 245000; Periodontitis 1, juvenile 170650

13 Feb 2019, Gel status: 2

Added New Source, Added New Source

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to CTSC. Source London North GLH was added to CTSC.

8 Jan 2019, Gel status: 2

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Sarah Leigh: Associated with relevant pheno

16 Dec 2018, Gel status: 2

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

Ellen McDonagh (Genomics England Curator)

gene: CTSC was added gene: CTSC was added to Inborn errors of metabolism. Sources: Expert Review Amber Mode of inheritance for gene: CTSC was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CTSC were set to 27604308 Phenotypes for gene: CTSC were set to Papillon-Lef vre syndrome (Other lysosomal disorders, Cathepsin-related disorders); Unexplained skeletal dysplasia