Cytopenia - NOT Fanconi anaemia
Gene: LAT
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 group.Created: 18 Feb 2019, 2:55 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Immunodeficiency 52, 617514
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: LAT; Suggested initial gene rating: I don't know; Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: Immunodeficiency 52, 617514; PMID(s): none submittedCreated: 18 Feb 2019, 2:57 p.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: LAT; Suggested intial gene rating: I don't know; Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: Immunodeficiency 52, 617514; PMID(s): 27522155; 27242165Created: 6 Feb 2019, 3:13 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: 6 Feb 2019, 3:12 p.m.
Added phenotypes Immunodeficiency 52, 617514 for gene: LAT
Source North West GLH was added to LAT.
Source NHS GMS was added to LAT.
Source Expert Review Amber was added to LAT. Mode of inheritance for gene LAT was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Immunodeficiency 52, 617514 for gene: LAT Publications for gene LAT were changed from to 27522155; 27242165 Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
gene: LAT was added gene: LAT was added to Cytopenia - NOT Fanconi anaemia. Sources: Wessex and West Midlands GLH Mode of inheritance for gene: LAT was set to