Cytopenias and congenital anaemias
Gene: CTC1EnsemblGeneIds (GRCh38): ENSG00000178971
EnsemblGeneIds (GRCh37): ENSG00000178971
OMIM: 613129, Gene2Phenotype
CTC1 is in 17 panels
2 reviews
Helen Brittain (Genomics England Curator)
Comment when marking as ready: Evidence of causation met, phenotype includes pancytopaeniaCreated: 28 Feb 2017, 1:20 p.m.
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
-
- Expert Review Green
- Expert list
- UKGTN
- Illumina TruGenome Clinical Sequencing Services
- 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
- Publications
- Panels with this gene
-
- Cytopenia - NOT Fanconi anaemia
- White matter disorders and cerebral calcification - narrow panel
- Cytopenias and congenital anaemias
- Primary immunodeficiency or monogenic inflammatory bowel disease
- DDG2P
- Haematological malignancies cancer susceptibility
- Intracerebral calcification disorders
- Intellectual disability
- 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
History Filter Activity
panel promoted to version 1
Arianna Tucci (Genomics England Curator)Promoted to V1 on 11 March 2017, after internal review and discussion with the clinical team.
Gene classified by Genomics England curator
Helen Brittain (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set publications
Helen Brittain (Genomics England Curator)Publications for CTC1 were set to 22532422; 22899577
Gene classified by Genomics England curator
Helen Brittain (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Added New Source
Louise Daugherty (Genomics England Curator)CTC1 was added to Cytopaenias and congenital anaemiaspanel. Sources: Expert list,Illumina TruGenome Clinical Sequencing Services,UKGTN
Created
Louise Daugherty (Genomics England Curator)CTC1 was created by LouiseD