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Primary immunodeficiency

Gene: CTSC

Green List (high evidence)

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

4 reviews

Kimberly Gilmour (Great Ormond Street Hopsital)

Green List (high evidence)

agree with green gene
Created: 17 Sep 2019, 3:18 p.m. | Last Modified: 17 Sep 2019, 3:18 p.m.
Panel Version: 1.94

Tracy Briggs (Manchester Genomic Medicine Centre)

Green List (high evidence)

YES- this is covered on our targeted exome
Created: 17 Sep 2019, 3:18 p.m. | Last Modified: 17 Sep 2019, 3:18 p.m.
Panel Version: 1.94

Sophie Hambleton (Newcastle University)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Severe periodontitis; palmoplantar keratoderma; Haim-Munk syndrome

Publications

Louise Daugherty (Genomics England Curator)

Green List (high evidence)

Gene rating submitted by Kimberly Gilmour and Austen Worth on behalf of London North GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email 6th September the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Created: 17 Sep 2019, 3:18 p.m. | Last Modified: 17 Sep 2019, 3:18 p.m.
Panel Version: 1.94
Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email on 20th June the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Created: 17 Sep 2019, 3:18 p.m. | Last Modified: 17 Sep 2019, 3:18 p.m.
Panel Version: 1.94
Comment on list classification: Changed Amber to Green from external review comment and further publications to support gene-disease association. At least four variants reported.
Created: 3 Jul 2018, 9:44 a.m.
Comment on mode of inheritance: Added MOI from external expert review
Created: 3 Jul 2018, 9:37 a.m.
Comment on publications: Added publications suggested from external expert review to support upgrading of the gene to Green
Created: 3 Jul 2018, 9:34 a.m.
OriginaI Metadata from IUIS classification table (February, 2018) downloaded 20180614. IUIS Genetic defect (original gene symbol in IUIS download): CTSC .PanelApp HGNC gene symbol check: CTSC . IUIS Disease: Papillon-Lefevre Syndrome . IUIS Inheritance: AR .T cells: Increased DN T cells, .B cells: N/A, .IUIS Other affected cells: N + M. IUIS Associated features: Periodontitis, palmoplantar hyperkeratosis in some patients. IUIS Major category: Congenital defects of phagocyte number or function. IUIS Subcategory: Defects of Motility
Created: 2 Jul 2018, 10:35 a.m.
This gene was absent from the original PanelApp PID panel dataset (review April 2018). However it was listed in external expert immunodeficiency diagnostic gene list(s) GOSH or GRID. In this combined PID panel, this gene has been rated as AMBER and needs further curational review to assess pertinence prior to v1.
Created: 20 Apr 2018, 12:25 p.m.
Original metadata downloaded from ESID Registry. ESID_Gene_original: CTSC, PanelApp HGNC gene symbol check: CTSC, ESID classification: Main_category/ Sub_category/ PID_Diagnosis Phagocytic disorders / Papillon-Lefevre syndrome / Papillon-Lefevre syndrome
Created: 17 Apr 2018, 12:29 p.m.
Original metadata supplied by GRID. GRID Gene Symbol HGNC PanelApp check: CTSC, GRID_Gene_Symbol: CTSC, GRID_Transcript_ENS_Community submitted: ENST00000227266, GRID_Transcript_RefSeq: NM_001814.4, GRID_Transcript_ENS_used_on_Production: ENST00000227266
Created: 17 Apr 2018, 12:12 p.m.

Details

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

History Filter Activity

17 Sep 2019, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to CTSC.

17 Sep 2019, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source North West GLH was added to CTSC.

17 Sep 2019, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source London North GLH was added to CTSC.

12 Jul 2018, Gel status: 3

Panel promoted to version 1.0

Louise Daugherty (Genomics England Curator)

2018-07-12 Louise Daugherty (Genomics England Curator) promoted panel to v1.0. Reviews were assessed, and panel was revised according to expert reviews and further in-house curation based on PanelApp guidelines. Previous panels (A- or hypo-gammaglobulinaemia, Congenital neutropaenia, Agranulocytosis, Combined B and T cell defect, Inherited complement deficiency and SCID panels) that were merged with this panel, were checked again for any changes/new reviews prior to versioning of this panel, these merged panels are now retired/made internal.

3 Jul 2018, Gel status: 3

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

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

3 Jul 2018, Gel status: 3

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

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

3 Jul 2018, Gel status: 2

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: CTSC were set to 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

3 Jul 2018, Gel status: 2

Set mode of inheritance

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene: CTSC was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

3 Jul 2018, Gel status: 2

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: CTSC were set to Papillon-Lefevre syndrome; Periodontitis, palmoplantar hyperkeratosis in some patients; Congenital defects of phagocyte number or function; Severe periodontitis; palmoplantar keratoderma; Haim-Munk syndrome

3 Jul 2018, Gel status: 2

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene: CTSC were set to 10593994; 10662807; 11106356

3 Jul 2018, Gel status: 2

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene: CTSC were set to 10593994; 10662807; 11106356

1 Jul 2018, Gel status: 2

Set penetrance

Louise Daugherty (Genomics England Curator)

Phenotypes for gene CTSC were set to Papillon-Lefevre syndrome, Periodontitis, palmoplantar hyperkeratosis in some patients, Congenital defects of phagocyte number or function

26 Jun 2018, Gel status: 2

Added New Source

Louise Daugherty (Genomics England Curator)

IUIS Classification February 2018 was added to CTSC. Panel: Primary immunodeficiency disorders

26 Jun 2018, Gel status: 2

Added New Source

Louise Daugherty (Genomics England Curator)

Victorian Clinical Genetics Services was added to CTSC. Panel: Primary immunodeficiency disorders

20 Apr 2018, Gel status: 2

Added New Source

Louise Daugherty (Genomics England Curator)

Expert Review Amber was added to CTSC. Panel: Primary immunodeficiency disorders

17 Apr 2018, Gel status: 1

Added New Source, Set penetrance

Louise Daugherty (Genomics England Curator)

ESID Registry 20171117 was added to CTSC. Panel: Primary immunodeficiency disorders Phenotypes for gene CTSC were set to Papillon-Lefevre syndrome

17 Apr 2018, Gel status: 1

Set penetrance

Louise Daugherty (Genomics England Curator)

Phenotypes for gene CTSC were set to Papillon-Lefevre syndrome

17 Apr 2018, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

CTSC was added to Primary immunodeficiency disorders panel. Sources: GRID V2.0

17 Apr 2018, Gel status: 1

Created

Louise Daugherty (Genomics England Curator)

CTSC was created by Louise Daugherty