Inherited bleeding disorders
Gene: LAT
LAT (linker for activation of T-cells)
EnsemblGeneIds (GRCh38): ENSG00000213658
EnsemblGeneIds (GRCh37): ENSG00000213658
OMIM: 602354, Gene2Phenotype
LAT is in 5 panels
EnsemblGeneIds (GRCh38): ENSG00000213658
EnsemblGeneIds (GRCh37): ENSG00000213658
OMIM: 602354, Gene2Phenotype
LAT is in 5 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
- 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