Cytopenia - NOT Fanconi anaemia
Gene: CYCS

CYCS (cytochrome c, somatic)
EnsemblGeneIds (GRCh38): ENSG00000172115
EnsemblGeneIds (GRCh37): ENSG00000172115
OMIM: 123970, Gene2Phenotype
CYCS is in 8 panels

3 reviews

Frances Smith (King's College Hospital)

Green List (high evidence)

Created: 4 May 2019, 8:54 p.m.

Panel version: 0.51

Louise Daugherty (Genomics England Curator)

Green List (high evidence)

Gene reviewed due to Haematology Specialist Test Group considering the inclusion of relevant neutropenia thrombocytopenia genes. The Specialist Test Group 21st October 2019 (consisting of 4 centres: WWMGLH, NWGLH, YNEGLH, LSGLH) all agreed that there is enough evidence to rate this gene Green. Additional comments from Haematology Specialist Test Group (Copy of Extra genes R91_consensus_v2.xlsx) 21st October 2019. Wessex and West Midlands GLH: Autosomal dominant thrombocytopenia 4; North West GLH: no comment submitted; Yorkshire and North East GLH: rare (4 cases); London South GLH: no comment submitted.
Created: 4 Nov 2019, 7:30 p.m. | Last Modified: 4 Nov 2019, 7:30 p.m.

Panel Version: 0.135

Comment on list classification: Comment on list classification: As discussed with the GMS Haematology Specialist Test Group at workshop 2nd July 2019. Gene was not submitted by all GLHs so needed further review by all the GLHs. All agreed that this gene should be in this panel and there is enough evidence to rate this gene Green.
Created: 22 Jul 2019, 1:25 p.m. | Last Modified: 22 Jul 2019, 1:25 p.m.

Panel Version: 0.80

New review/rating by Frances Smith, Viapath Kings College Hospital (Curation_Template_GMS_Haem_FS_updated_reviews_20190425.xlsx) on behalf of London South GLH for the GMS Haematology specialist test group. Gene rated as Green.
Created: 4 May 2019, 8:55 p.m.

Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: CYCS; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Phenotypes: 612004 Thrombocytopenia 4; PMID(s): none submitted
Created: 14 Feb 2019, 5:40 p.m.

Created: 14 Feb 2019, 5:40 p.m.

Panel version: 0.135

Mandy nesbitt (Healthcare Professional)

Green List (high evidence)

Gene rating submitted by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group.
Created: 14 Feb 2019, 5:39 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
612004 Thrombocytopenia 4

Created: 14 Feb 2019, 5:39 p.m.

Panel version: 0.17

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert review Green
North West GLH
Wessex and West Midlands GLH
Expert Review Green
London South GLH
NHS GMS
Yorkshire and North East GLH

Phenotypes

Thrombocytopenia 4, OMIM:612004

OMIM

123970

Clinvar variants

Variants in CYCS

Penetrance

None

Publications

Panels with this gene

History Filter Activity

12 Mar 2024, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: CYCS were changed from Thrombocytopenia 4, 612004; Thrombocytopenia to Thrombocytopenia 4, OMIM:612004

4 Nov 2019, Gel status: 3