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Cytopenias and congenital anaemias

Gene: CYCS

Red List (low evidence)

CYCS (cytochrome c, somatic)
EnsemblGeneIds (GRCh38): ENSG00000172115
EnsemblGeneIds (GRCh37): ENSG00000172115
OMIM: 123970, Gene2Phenotype
CYCS is in 9 panels

1 review

Helen Brittain (Genomics England Curator)

I don't know

Comment when marking as ready: Phenotype not appropriate as isolated to platelets
Created: 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, 612004
OMIM
123970
Clinvar variants
Variants in CYCS
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

11 Mar 2017, Gel status: 1

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: 1

Gene classified by Genomics England curator

Helen Brittain (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

28 Feb 2017, Gel status: 1

Set publications

Helen Brittain (Genomics England Curator)

Publications for CYCS were set to 18345000; 24326104

28 Feb 2017, Gel status: 1

Gene classified by Genomics England curator

Helen Brittain (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

17 Feb 2017, Gel status: 2

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

17 Feb 2017, Gel status: 0

Created

Louise Daugherty (Genomics England Curator)

CYCS was created by LouiseD