Cytopenia - NOT Fanconi anaemia
Gene: CYCS
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 submittedCreated: 14 Feb 2019, 5:40 p.m.
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
Phenotypes for gene: CYCS were changed from Thrombocytopenia 4, 612004; Thrombocytopenia to Thrombocytopenia 4, OMIM:612004
Source Expert review Green was added to CYCS.
Source Wessex and West Midlands GLH was added to CYCS. Source North West GLH was added to CYCS.
Phenotypes for gene: CYCS were changed from 612004 Thrombocytopenia 4; Thrombocytopenia to Thrombocytopenia 4, 612004; Thrombocytopenia
Gene: cycs has been classified as Green List (High Evidence).
Source London South GLH was added to CYCS. Rating Changed from Green List (high evidence) to Green List (high evidence)
Publications for gene: CYCS were set to
Phenotypes for gene: CYCS were changed from 612004 Thrombocytopenia 4 to 612004 Thrombocytopenia 4; Thrombocytopenia
Mode of inheritance for gene: CYCS was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Gene: cycs has been classified as Green List (High Evidence).
Added phenotypes 612004 Thrombocytopenia 4 for gene: CYCS
Source NHS GMS was added to CYCS.
gene: CYCS was added gene: CYCS was added to Cytopenia - NOT Fanconi anaemia. Sources: Yorkshire and North East GLH Mode of inheritance for gene: CYCS was set to