Cytopenias and congenital anaemias
Gene: CTC1
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
Mode of inheritance
Unknown
Phenotypes
Severe congenital neutropenia; Dyskeratosis congenita
Publications
Variants in this GENE are reported as part of current diagnostic practice
Promoted to V1 on 11 March 2017, after internal review and discussion with the clinical team.
This gene has been classified as Green List (High Evidence).
Publications for CTC1 were set to 22532422; 22899577
This gene has been classified as Green List (High Evidence).
CTC1 was added to Cytopaenias and congenital anaemiaspanel. Sources: Expert list,Illumina TruGenome Clinical Sequencing Services,UKGTN
CTC1 was created by LouiseD