Childhood solid tumours
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
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Details
- Mode of Inheritance
- 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
- 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
- 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
2 Aug 2019, Gel status: 2
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Ivone Leong (Genomics England Curator)gene: CTC1 was added gene: CTC1 was added to Tumour predisposition - childhood onset. Sources: NHS GMS,Expert Review Amber Mode of inheritance for gene: CTC1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CTC1 were set to 22387016; 22899577; 22267198; 22532422 Phenotypes for gene: CTC1 were set to Dyskeratosis congenita; Cerebroretinal microangiopathy with calcifications and cysts/CTC1 related Dyskeratosis Congenita; Inherited Bone Marrow Failure Syndromes; Dyskeratosis Congenita, Recessive; 612199 Coats plus syndrome