CTC1

CST telomere replication complex component 1
OMIM: 613129, Gene2Phenotype

17 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 17 panels
Green CTC1 in Haematological malignancies for rare disease Level 3: Tumour syndromes Level 2: Tumour syndromes Version 1.19	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 1.146	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 Level 2: Neurology Version 7.13 Latest signed off version: v7.0 (30 Apr 2025) 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 2: Cancer susceptibility Version 5.9 Latest signed off version: v5.0 (30 Apr 2025)	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 Level 2: Neurology Version 6.8 Latest signed off version: v6.0 (30 Apr 2025)	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 1.31	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 Level 2: Immunology Version 8.78 Latest signed off version: v8.0 (30 Apr 2025)	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 1.123	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 1.36	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 2: Cancer susceptibility Version 2.35 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 2: Cancer susceptibility Version 4.37 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 Level 2: Haematology Version 4.32 Latest signed off version: v4.0 (30 Apr 2025)	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 Level 2: Fetal (including NIPD) Version 6.140 Latest signed off version: v6.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources PAGE DD-Gene2Phenotype Expert Review Green Phenotypes CEREBRORETINAL MICROANGIOPATHY WITH CALCIFICATIONS AND CYSTS
Green CTC1 in DDG2P Version 6.424 Latest signed off version: v6.0 (30 Apr 2025) 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 Level 2: Developmental disorders Version 9.285 Latest signed off version: v9.0 (30 Apr 2025) 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 2: Ophthalmology Version 8.86 Latest signed off version: v8.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Cerebroretinal microangiopathy with calcifications and cysts, OMIM:612199
Green CTC1 in Pulmonary fibrosis familial Level 2: Respiratory Version 1.8 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