Primary immunodeficiency or monogenic inflammatory bowel disease
Gene: CTC1
agree with all the Amber genesCreated: 25 Sep 2019, 1:49 p.m. | Last Modified: 25 Sep 2019, 1:49 p.m.
Panel Version: 1.115
The amber genes are covered on our targeted exome, we feel that these should be covered in the testingCreated: 25 Sep 2019, 1:44 p.m. | Last Modified: 25 Sep 2019, 1:44 p.m.
Panel Version: 1.114
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 GroupCreated: 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 AmberCreated: 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 AmberCreated: 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 AmberCreated: 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 TelomeresCreated: 6 Jul 2018, 10:17 a.m.
immune manifestations not prominentCreated: 29 Jun 2018, 4:26 p.m.
Source IUIS Classification December 2019 was added to CTC1. Added phenotypes 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; Bone marrow failure for gene: CTC1 Publications for gene CTC1 were updated from 22267198 to 32048120; 22267198; 32086639
Gene: ctc1 has been classified as Amber List (Moderate Evidence).
Source North West GLH was added to CTC1.
Source London North GLH was added to CTC1.
Source NHS GMS was added to CTC1.
Publications for gene: CTC1 were set to 22267198
Publications for gene: CTC1 were set to 22267198
Publications for gene: CTC1 were set to
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.
Gene: ctc1 has been classified as Red List (Low Evidence).
Phenotypes for gene: CTC1 were set to Cerebroretinal microangiopathy with calcifications and cysts, 612199; 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; Combined immunodeficiencies with associated or syndromic features
Mode of inheritance for gene: CTC1 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Mode of inheritance for gene: CTC1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene CTC1 were set to 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, Combined immunodeficiencies with associated or syndromic features
CTC1 was added to Primary immunodeficiency disorders panel. Sources: IUIS Classification February 2018
CTC1 was created by Louise Daugherty