Cytopenias and congenital anaemiasGene: LAT
Comment on list classification: 2 independent cases and 2 variants (a 2 bp deletion and a 1 bp insertion) reported in OMIM: 1 Arab family in Keller et al 2016/PMID:27242165, and 1 Pakistani family in Bacchelli et al 2017/PMID:27522155). No more current publications and not yet associated with a disease in DD-G2P. Therefore currently insufficient cases to rate green so rated as Amber and added 'watchlist' tag in anticipation of further publications.
Created: 29 Aug 2017, 9:21 a.m.
Added to this panel as advised by Helen Brittain after a new gene-disorder association was reported in OMIM in June 2017 (Immunodeficiency 52, MIM:617514).
Created: 29 Aug 2017, 9:20 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Immunodeficiency 52, 617514
This gene has been classified as Amber List (Moderate Evidence).
LAT was added to Cytopaenias and congenital anaemiaspanel. Sources: Other
LAT was created by rfoulger