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COVID-19 research

Gene: CTC1

Green List (high evidence)

CTC1 (CST telomere replication complex component 1)
EnsemblGeneIds (GRCh38): ENSG00000178971
EnsemblGeneIds (GRCh37): ENSG00000178971
OMIM: 613129, Gene2Phenotype
CTC1 is in 16 panels

4 reviews

Kimberly Gilmour (Great Ormond Street Hopsital)

I don't know

agree with all the Amber genes
Created: 25 Sep 2019, 1:49 p.m. | Last Modified: 25 Sep 2019, 1:49 p.m.
Panel Version: 1.115

Tracy Briggs (Manchester Genomic Medicine Centre)

I don't know

The amber genes are covered on our targeted exome, we feel that these should be covered in the testing
Created: 25 Sep 2019, 1:44 p.m. | Last Modified: 25 Sep 2019, 1:44 p.m.
Panel Version: 1.114

Louise Daugherty (Genomics England Curator)

I don't know

Cerebroretinal microangiopathy with calcifications and cysts: spasticity / dystonia / ataxia / seizures / cognitive decline (green association but ?phenotype)
Created: 26 Sep 2019, 3:51 p.m. | Last Modified: 26 Sep 2019, 3:51 p.m.
Panel Version: 1.130
Comment on list classification: Changed rating from Red to Amber to reflect the agreed rating agreed by the GMS Immunology Specialist Test Group
Created: 25 Sep 2019, 3:04 p.m. | Last Modified: 25 Sep 2019, 3:04 p.m.
Panel Version: 1.117
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 only enough evidence to rate this gene Amber.
Created: 25 Sep 2019, 3 p.m. | Last Modified: 25 Sep 2019, 3 p.m.
Panel Version: 1.116
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 only enough evidence to rate this gene Amber
Created: 25 Sep 2019, 3 p.m. | Last Modified: 25 Sep 2019, 3 p.m.
Panel Version: 1.116
Comment on publications: PMID: 22267198 suggested by Tracy Briggs (NWGLH) on behalf of The Specialist Test Group to support rating of the gene to be Amber
Created: 15 Aug 2019, 4:18 p.m. | Last Modified: 15 Aug 2019, 4:18 p.m.
Panel Version: 1.45
Comment on publications: PMID: 22267198 suggested by Tracy Briggs (NWGLH) on behalf of The Specialist Test Group to support rating of the gene to be Amber
Created: 15 Aug 2019, 4:18 p.m. | Last Modified: 15 Aug 2019, 4:18 p.m.
Panel Version: 1.45
OriginaI Metadata from IUIS classification table (February, 2018) downloaded 20180614. IUIS Genetic defect (original gene symbol in IUIS download): CTC1 .PanelApp HGNC gene symbol check: CTC1 . IUIS Disease: Coats plus syndrome due to CTC1 deficiency . IUIS Inheritance: AR .T cells: Lymphopenia, .B cells: Normal, .IUIS Other affected cells: N/A. IUIS Associated features: Intrauterine growth retardation, sparse graying hair, dystrophic nails, trilinear bone marrow failure, osteopenia, gastrointestinal hemorrhage due to vascular ectasia, retinal telangiectasia, intracranial calcification, abnormal telomeres. IUIS Major category: Combined immunodeficiencies with associated or syndromic features. IUIS Subcategory: DyskeratosIs Congenita (DKC), Myelodysplasia, Short Telomeres
Created: 6 Jul 2018, 10:17 a.m.

Sophie Hambleton (Newcastle University)

Red List (low evidence)

immune manifestations not prominent
Created: 29 Jun 2018, 4:26 p.m.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
Phenotypes
  • Combined immunodeficiencies with associated or syndromic features
  • Bone marrow failure
  • Intrauterine growth retardation, sparse graying hair, dystrophic nails, trilinear bone marrow failure, osteopenia, gastrointestinal hemorrhage due to vascular ectasia, retinal telangiectasia, intracranial calcification, abnormal telomeres
  • Cerebroretinal microangiopathy with calcifications and cysts, 612199
OMIM
613129
Clinvar variants
Variants in CTC1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

2 Apr 2020, Gel status: 3

Added New Source, Set Phenotypes, Status Update

Ellen McDonagh (Genomics England Curator)

Source Expert Review Green was added to CTC1. Added phenotypes Cerebroretinal microangiopathy with calcifications and cysts, 612199; Combined immunodeficiencies with associated or syndromic features; Bone marrow failure; Intrauterine growth retardation, sparse graying hair, dystrophic nails, trilinear bone marrow failure, osteopenia, gastrointestinal hemorrhage due to vascular ectasia, retinal telangiectasia, intracranial calcification, abnormal telomeres for gene: CTC1 Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

1 Apr 2020, Gel status: 2

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

Ellen McDonagh (Genomics England Curator)

gene: CTC1 was added gene: CTC1 was added to Viral susceptibility. Sources: North West GLH,NHS GMS,London North GLH,IUIS Classification December 2019,IUIS Classification February 2018,Expert Review Amber Mode of inheritance for gene: CTC1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CTC1 were set to 22267198; 32086639; 32048120 Phenotypes for gene: CTC1 were set to Cerebroretinal microangiopathy with calcifications and cysts, 612199; Combined immunodeficiencies with associated or syndromic features; Bone marrow failure; Intrauterine growth retardation, sparse graying hair, dystrophic nails, trilinear bone marrow failure, osteopenia, gastrointestinal hemorrhage due to vascular ectasia, retinal telangiectasia, intracranial calcification, abnormal telomeres