This Panel is marked as Internal
Anaemias and red cell disorders
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
2 reviews
Helen Brittain (Genomics England Curator)
Above PMID contains reference to 5 families and 6 individuals with biallelic mutations. 5 with pancytopaenia and 1 leukopaenia of childhood onset. Although previously mutations had been associated with the Coats plus phenotype, it is worth including as bone marrow failure is part of the spectrum associated with this gene.Created: 16 Feb 2017, 3:51 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Cerebroretinal microangiopathy with calcifications and cysts 612199
Publications
- PMID 22899577
BRIDGE consortium (NIHRBR-RD)
Mode of inheritance
Unknown
Phenotypes
Severe congenital neutropenia; Dyskeratosis congenita
Publications
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- UKGTN
- Illumina TruGenome Clinical Sequencing Services
- Expert list
- Phenotypes
-
- Inherited Bone Marrow Failure Syndromes
- Dyskeratosis congenita
- Dyskeratosis Congenita, Recessive
- Cerebroretinal microangiopathy with calcifications and cysts/CTC1 related Dyskeratosis Congenita
- OMIM
- 613129
- Clinvar variants
- Variants in CTC1
- Penetrance
- Complete
- Panels with this gene
-
- Haematological malignancies cancer susceptibility
- Cytopenia - NOT Fanconi anaemia
- Intracerebral calcification disorders
- Pulmonary fibrosis familial
- Cytopenias and congenital anaemias
- COVID-19 research
- Adult onset leukodystrophy
- Childhood solid tumours
- Haematological malignancies for rare disease
- Retinal disorders
- Intellectual disability
- Ductal plate malformation
- Adult solid tumours cancer susceptibility
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Fetal anomalies
- DDG2P
- White matter disorders and cerebral calcification - narrow panel
History Filter Activity
22 Jul 2016, Gel status: 2
Added New Source
Ellen McDonagh (Genomics England Curator)CTC1 was added to Anaemias and red cell disorderspanel. Source: Illumina TruGenome Clinical Sequencing Services
22 Jul 2016, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)CTC1 was added to Anaemias and red cell disorderspanel. Sources: UKGTN,Expert list
22 Jul 2016, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)CTC1 was created by ellenmcdonagh