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Cytopenias and congenital anaemias

Gene: CTC1

Green List (high evidence)

CTC1 (CST telomere replication complex component 1)
EnsemblGeneIds (GRCh38): ENSG00000178971
EnsemblGeneIds (GRCh37): ENSG00000178971
OMIM: 613129, Gene2Phenotype
CTC1 is in 17 panels

2 reviews

Helen Brittain (Genomics England Curator)

Green List (high evidence)

Comment when marking as ready: Evidence of causation met, phenotype includes pancytopaenia
Created: 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

BRIDGE consortium (NIHRBR-RD)

Green List (high evidence)

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

History Filter Activity

11 Mar 2017, Gel status: 4

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.

28 Feb 2017, Gel status: 4

Gene classified by Genomics England curator

Helen Brittain (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

28 Feb 2017, Gel status: 4

Set publications

Helen Brittain (Genomics England Curator)

Publications for CTC1 were set to 22532422; 22899577

28 Feb 2017, Gel status: 4

Gene classified by Genomics England curator

Helen Brittain (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

17 Feb 2017, Gel status: 2

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

17 Feb 2017, Gel status: 0

Created

Louise Daugherty (Genomics England Curator)

CTC1 was created by LouiseD