Haematological malignancies for rare disease
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
- None
- Publications
- Panels with this gene
-
- Intellectual disability
- Cytopenia - NOT Fanconi anaemia
- Cytopenias and congenital anaemias
- Primary immunodeficiency or monogenic inflammatory bowel disease
- DDG2P
- Haematological malignancies cancer susceptibility
- Intracerebral calcification disorders
- Adult onset leukodystrophy
- COVID-19 research
- Haematological malignancies for rare disease
- Retinal disorders
- 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
22 Aug 2018, Gel status: 4
Panel promoted to version 1.0
Ellen McDonagh (Genomics England Curator)22nd August 2018: Reviewed by Helen Brittain, and suggested changes approved by Clare Turnbull. Changes made prior to promoting to version 1.
10 Apr 2018, Gel status: 4
Added New Source
Ellen McDonagh (Genomics England Curator)CTC1 was added to Haematological malignancies for rare disease panel. Sources: Curated sources,Expert Review Green
10 Apr 2018, Gel status: 4
Created
Ellen McDonagh (Genomics England Curator)CTC1 was created by Ellen McDonagh