Cytopenias and congenital anaemias
Gene: CYCS
Comment when marking as ready: Phenotype not appropriate as isolated to plateletsCreated: 28 Feb 2017, 1:23 p.m.
Comment on list classification: Phenotype restricted to platelet anomaly only. It is on the inherited bleeding disorders panel which is appropriate.Created: 28 Feb 2017, 1:23 p.m.
Two families reported. Phenotype is of isolated platelet abnormalities therefore on balance not appropriate for inclusion based upon phenotype and number of cases, therefore amber.Created: 28 Feb 2017, 11:18 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Thrombocytopenia 4 612004
Publications
Phenotypes for gene: CYCS were changed from Thrombocytopenia 4, 612004 to Thrombocytopenia 4, OMIM:612004
Promoted to V1 on 11 March 2017, after internal review and discussion with the clinical team.
This gene has been classified as Red List (Low Evidence).
Publications for CYCS were set to 18345000; 24326104
This gene has been classified as Red List (Low Evidence).
CYCS was created by LouiseD
CYCS was added to Cytopaenias and congenital anaemiaspanel. Sources: Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services