Inherited bleeding disorders

Gene: LAT

Amber List (moderate evidence)

LAT (linker for activation of T-cells)
EnsemblGeneIds (GRCh38): ENSG00000213658
EnsemblGeneIds (GRCh37): ENSG00000213658
OMIM: 602354, Gene2Phenotype
LAT is in 7 panels

1 review

Rebecca Foulger (Genomics England curator)

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, 9:23 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, 9:23 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Immunodeficiency 52, 617514

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Other
Phenotypes
  • Immunodeficiency 52, 617514
Tags
watchlist
OMIM
602354
Clinvar variants
Variants in LAT
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

29 Aug 2017, Gel status: 2

Gene classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

This gene has been classified as Amber List (Moderate Evidence).

29 Aug 2017, Gel status: 0

Added New Source

Rebecca Foulger (Genomics England curator)

LAT was added to Inherited bleeding disorderspanel. Sources: Other

29 Aug 2017, Gel status: 0

Created

Rebecca Foulger (Genomics England curator)

LAT was created by rfoulger