Bleeding and platelet disorders
Gene: LYST
Classed as tier 1 by ISTH based on "gene-disease association had been reported in at least 3 independent pedigrees, or <3 pedigrees and supported by specific functional data and/or a mouse model, and following expert discussions during yearly SSC meeting".Created: 13 Mar 2019, 10:25 a.m.
Gene rating submitted by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test groupCreated: 18 Feb 2019, 11:23 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
214500 Chediak-Higashi syndrome
Follow up email correspondence with Patricia Bignell 13th March (webex 8.03.19 WWMGLH comments v1.doc), on behalf of Wessex and the West Midlands GLH for the GMS Haematology specialist test group, suggested rating GreenCreated: 28 May 2019, 2:08 p.m.
Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: LYST; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 214500 Chediak-Higashi syndrome; PMID(s): none submittedCreated: 18 Feb 2019, 11:28 a.m.
Initial gene list (Consensus Genes for Panels 17.12.18_Haem_WWMGLH_v3.xlxs) collated by Carl Fratter Oxford Medical Genetics Laboratories January 2019 on behalf of Wessex and the West Midlands GLH for the GMS Haematology specialist test group. Gene Symbol submitted: LYST; Suggested intial gene rating: Green List (high evidence); Are variants in this gene as part of your current diagnostic practice? Yes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 214500 Chediak-Higashi syndrome ; PMID(s): 11857544; 9215680; 21209802Created: 5 Feb 2019, 1:26 p.m.
Gene rating submitted by Carl Fratter Oxford Medical Genetics Laboratories January 2019 on behalf of Wessex and the West Midlands GLH for the GMS Haematology specialist test group.Created: 5 Feb 2019, 11:19 a.m.
Variants in this GENE are reported as part of current diagnostic practice
Added phenotypes 214500 Chediak-Higashi syndrome for gene: LYST
Source North West GLH was added to LYST.
Source NHS GMS was added to LYST.
Source Expert Review Green was added to LYST. Mode of inheritance for gene LYST was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes 214500 Chediak-Higashi syndrome for gene: LYST Publications for gene LYST were changed from to 9215680; 11857544; 21209802 Rating Changed from Red List (low evidence) to Green List (high evidence)
gene: LYST was added gene: LYST was added to Bleeding and platelet disorders. Sources: Wessex and West Midlands GLH Mode of inheritance for gene: LYST was set to