CTC1

CST telomere replication complex component 1
OMIM: 613129, Gene2Phenotype

17 panels

Panel Reviews Mode of inheritance Details
17 panels

Green CTC1 in Haematological malignancies for rare disease

Level 3: Tumour syndromes
Level 2: Tumour syndromes
Version 1.1

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Curated sources
Phenotypes
  • Class: BM failure FA, (typ AR)
  • Dyskeratosis congenita
  • MDS
  • AML
  • Bone marrow failure, macrocytosis
  • Skin, head and neck, and anogenital squamous cell cancers, Oral and GI squamous cell carcinoma

Green CTC1 in COVID-19 research


Level 2: Viral research
Version 1.76

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • IUIS Classification February 2018
  • IUIS Classification December 2019
  • London North GLH
  • NHS GMS
  • North West GLH
  • IUIS Classification December 2019
  • North West GLH
  • London North GLH
  • NHS GMS
  • IUIS Classification February 2018
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

Green CTC1 in White matter disorders and cerebral calcification - narrow panel


Version 1.32
Latest signed off version: v1.12 (2 Mar 2020)

Component of the following Super Panels:

  • White matter disorders - childhood onset
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    Phenotypes
    • Coats Plus syndrome
    • Cerebroretinal microangiopathy with calcifications and cysts, 612199

    Amber CTC1 in Tumour predisposition - childhood onset

    Level 3: Childhood Tumours
    Level 2: Tumour syndromes
    Version 2.17
    Latest signed off version: v2.5 (4 Mar 2020)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • NHS GMS
    Phenotypes
    • Dyskeratosis congenita
    • Cerebroretinal microangiopathy with calcifications and cysts/CTC1 related Dyskeratosis Congenita
    • Inherited Bone Marrow Failure Syndromes
    • Dyskeratosis Congenita, Recessive
    • 612199 Coats plus syndrome

    Green CTC1 in White matter disorders - adult onset


    Version 1.8
    Latest signed off version: v1.6 (15 Oct 2020)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    • Yorkshire and North East GLH
    Phenotypes
    • Cerebroretinal microangiopathy with calcifications and cysts, 612199

    Red CTC1 in Ductal plate malformation


    Version 1.16

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Illumina TruGenome Clinical Sequencing Services
    Phenotypes
    • Cerebroretinal microangiopathy with calcifications and cysts (612199)

    Amber CTC1 in Primary immunodeficiency


    Version 2.402
    Latest signed off version: v2.1 (24 Feb 2020)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • IUIS Classification December 2019
    • Expert Review Amber
    • North West GLH
    • London North GLH
    • NHS GMS
    • IUIS Classification February 2018
    Phenotypes
    • Combined immunodeficiencies with associated or syndromic 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
    • Bone marrow failure
    • Cerebroretinal microangiopathy with calcifications and cysts, 612199

    Green CTC1 in Cytopenias and congenital anaemias

    Level 3: Anaemias and red cell disorders
    Level 2: Haematological disorders
    Version 1.84

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    • UKGTN
    • Illumina TruGenome Clinical Sequencing Services
    Phenotypes
    • Inherited Bone Marrow Failure Syndromes
    • Dyskeratosis congenita
    • Dyskeratosis Congenita, Recessive
    • Cerebroretinal microangiopathy with calcifications and cysts/CTC1 related Dyskeratosis Congenita

    Green CTC1 in Intracerebral calcification disorders

    Level 3: Parenchymal brain disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.27

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Radboud University Medical Center, Nijmegen
    • Expert list
    Phenotypes
    • Cerebroretinal microangiopathy with calcifications and cysts, 612199
    • Coats Plus syndrome

    Amber CTC1 in Adult solid tumours cancer susceptibility

    Level 3: Pertinent cancer susceptibility gene panel
    Level 2: Cancer Programme
    Version 2.7
    Latest signed off version: v2.2 (18 Feb 2020)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • NHS GMS
    Phenotypes
    • Dyskeratosis congenita
    • Cerebroretinal microangiopathy with calcifications and cysts/CTC1 related Dyskeratosis Congenita
    • Inherited Bone Marrow Failure Syndromes
    • Dyskeratosis Congenita, Recessive
    • 612199 Coats plus syndrome

    Green CTC1 in Haematological malignancies cancer susceptibility

    Level 3: Pertinent cancer susceptibility gene panel
    Level 2: Cancer Programme
    Version 2.15
    Latest signed off version: v2.2 (18 Feb 2020)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Curated sources
    Phenotypes
    • Class: BM failure FA, (typ AR)
    • Dyskeratosis congenita
    • MDS
    • AML
    • Bone marrow failure, macrocytosis
    • Skin, head and neck, and anogenital squamous cell cancers, Oral and GI squamous cell carcinoma

    Green CTC1 in Cytopenia - NOT Fanconi anaemia


    Version 1.36
    Latest signed off version: v1.29 (15 Oct 2020)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • North West GLH
    • Yorkshire and North East GLH
    • London South GLH
    • NHS GMS
    • Wessex and West Midlands GLH
    Phenotypes
    • Cerebroretinal microangiopathy with calcifications and cysts/CTC1 related Dyskeratosis Congenita
    • Dyskeratosis Congenita, Recessive
    • Inherited Bone Marrow Failure Syndromes
    • 612199 Coats plus syndrome
    • Dyskeratosis congenita

    Green CTC1 in Fetal anomalies


    Version 1.638
    Latest signed off version: v1.637 (30 Jun 2021)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • PAGE DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • CEREBRORETINAL MICROANGIOPATHY WITH CALCIFICATIONS AND CYSTS

    Green CTC1 in DDG2P


    Version 2.21
    Latest signed off version: v2.2 (13 Feb 2020)

    Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • CEREBRORETINAL MICROANGIOPATHY WITH CALCIFICATIONS AND CYSTS 612199

    Green CTC1 in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.1002
    Latest signed off version: v3.1001 (16 Dec 2021)

    Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green
    Phenotypes
    • CEREBRORETINAL MICROANGIOPATHY WITH CALCIFICATIONS AND CYSTS

    Amber CTC1 in Retinal disorders

    Level 3: Posterior segment abnormalities
    Level 2: Ophthalmological disorders
    Version 2.173
    Latest signed off version: v2.7 (25 Feb 2020)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Expert list
    Phenotypes
    • Cerebroretinal microangiopathy with calcifications and cysts, OMIM:612199
    Tags
    • for-review

    Green CTC1 in Severe Paediatric Disorders


    Version 1.66

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Cerebroretinal microangiopathy with calcifications and cysts, 612199