1. Genes and Genomic Entities
  2. CTC1

CTC1

CST telomere replication complex component 1
OMIM: 613129, Gene2Phenotype

18 panels

Panel Reviews Mode of inheritance Details
18 panels
Green CTC1 in Haematological malignancies for rare disease

Level 3: Tumour syndromes
Level 2: Tumour syndromes
Version 1.16

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 1.141

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 3.35
Latest signed off version: v3.0 (22 Mar 2023)

Component of the following Super Panels:

  • Childhood onset leukodystrophy

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    Phenotypes
    • Coats Plus syndrome
    • Cerebroretinal microangiopathy with calcifications and cysts, 612199
    Amber CTC1 in Childhood solid tumours

    Level 3: Childhood Tumours
    Level 2: Tumour syndromes
    Version 4.18
    Latest signed off version: v4.0 (22 Mar 2023)

    		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
    Amber CTC1 in Adult onset leukodystrophy


    Version 3.24
    Latest signed off version: v3.0 (22 Mar 2023)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • NHS GMS
    • Yorkshire and North East GLH
    Phenotypes
    • Cerebroretinal microangiopathy with calcifications and cysts, OMIM:612199
    Red CTC1 in Ductal plate malformation


    Version 1.29

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Illumina TruGenome Clinical Sequencing Services
    Phenotypes
    • Cerebroretinal microangiopathy with calcifications and cysts (612199)
    Amber CTC1 in Primary immunodeficiency or monogenic inflammatory bowel disease


    Version 4.201
    Latest signed off version: v4.0 (22 Mar 2023)

    		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 1.118

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    • Illumina TruGenome Clinical Sequencing Services
    • UKGTN
    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 1.35

    		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 2.29
    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 4.4
    Latest signed off version: v4.0 (22 Mar 2023)

    		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 3.32
    Latest signed off version: v3.0 (22 Mar 2023)

    		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 3.155
    Latest signed off version: v3.0 (22 Mar 2023)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • PAGE DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • CEREBRORETINAL MICROANGIOPATHY WITH CALCIFICATIONS AND CYSTS
    Green CTC1 in DDG2P


    Version 3.87
    Latest signed off version: v3.1 (22 Mar 2023)

    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
    Amber CTC1 in Intellectual disability - microarray and sequencing

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 5.532
    Latest signed off version: v5.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Victorian Clinical Genetics Services
    Phenotypes
    • Cerebroretinal microangiopathy with calcifications and cysts, OMIM:612199
    Green CTC1 in Retinal disorders

    Level 3: Posterior segment abnormalities
    Level 2: Ophthalmological disorders
    Version 4.89
    Latest signed off version: v4.0 (22 Mar 2023)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Cerebroretinal microangiopathy with calcifications and cysts, OMIM:612199
    Green CTC1 in Severe Paediatric Disorders


    Version 1.184

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Cerebroretinal microangiopathy with calcifications and cysts, 612199
    Green CTC1 in Pulmonary fibrosis familial

    Level 3: Interstitial lung disorders
    Level 2: Respiratory disorders
    Version 1.7
    Latest signed off version: v1.3 (30 Nov 2022)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    Phenotypes
    • Cerebroretinal microangiopathy with calcifications and cysts, OMIM:612199