Cytopenias and congenital anaemias
Gene: CYCSEnsemblGeneIds (GRCh38): ENSG00000172115
EnsemblGeneIds (GRCh37): ENSG00000172115
OMIM: 123970, Gene2Phenotype
CYCS is in 8 panels
1 review
Helen Brittain (Genomics England Curator)
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
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Red
- Illumina TruGenome Clinical Sequencing Services
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- Thrombocytopenia 4, OMIM:612004
- OMIM
- 123970
- Clinvar variants
- Variants in CYCS
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: CYCS were changed from Thrombocytopenia 4, 612004 to Thrombocytopenia 4, OMIM:612004
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 Red List (Low Evidence).
Set publications
Helen Brittain (Genomics England Curator)Publications for CYCS were set to 18345000; 24326104
Gene classified by Genomics England curator
Helen Brittain (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
Created
Louise Daugherty (Genomics England Curator)CYCS was created by LouiseD
Added New Source
Louise Daugherty (Genomics England Curator)CYCS was added to Cytopaenias and congenital anaemiaspanel. Sources: Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services