Haematological malignancies cancer susceptibility
Gene: CTC1
CTC1 (CST telomere replication complex component 1)
EnsemblGeneIds (GRCh38): ENSG00000178971
EnsemblGeneIds (GRCh37): ENSG00000178971
OMIM: 613129, Gene2Phenotype
CTC1 is in 17 panels
EnsemblGeneIds (GRCh38): ENSG00000178971
EnsemblGeneIds (GRCh37): ENSG00000178971
OMIM: 613129, Gene2Phenotype
CTC1 is in 17 panels
1 review
Clare Turnbull (Queen Mary University London)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Details
- Mode of Inheritance
- 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
- OMIM
- 613129
- Clinvar variants
- Variants in CTC1
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Intellectual disability
- Cytopenia - NOT Fanconi anaemia
- Cytopenias and congenital anaemias
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Retinal disorders
- DDG2P
- Haematological malignancies cancer susceptibility
- Intracerebral calcification disorders
- Adult onset leukodystrophy
- COVID-19 research
- Haematological malignancies for rare disease
- Ductal plate malformation
- Childhood solid tumours
- Adult solid tumours cancer susceptibility
- Pulmonary fibrosis familial
- Fetal anomalies
- White matter disorders and cerebral calcification - narrow panel
History Filter Activity
7 Sep 2018, Gel status: 4
Panel promoted to version 1.0
Louise Daugherty (Genomics England Curator)Ellen McDonagh: Comment on mode of inheritance
30 Jan 2018, Gel status: 4
Added New Source
Ellen McDonagh (Genomics England Curator)Expert Review Green was added to CTC1. Panel: Haematological malignancies pertinent cancer susceptibility
21 Jun 2017, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)CTC1 was created by ellenmcdonagh
21 Jun 2017, Gel status: 0
Added New Source
Ellen McDonagh (Genomics England Curator)CTC1 was added to Haematological malignanciespanel. Sources: Curated sources