Adult onset neurodegenerative disorder
Gene: TREM2
Associated with a frontotemporal dementia-like syndromeCreated: 23 Jul 2019, 3:35 p.m. | Last Modified: 23 Jul 2019, 3:35 p.m.
Panel Version: 1.72
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Dementia; Dystonia
Publications
Variants in this GENE are reported as part of current diagnostic practice
Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.Created: 23 Jul 2019, 3:51 p.m. | Last Modified: 23 Jul 2019, 3:51 p.m.
Panel Version: 1.74
Review and rating submitted byJames Polke (North Bristol NHS Trust), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.Created: 23 Apr 2019, 5:35 p.m.
Phenotypes for gene: TREM2 were changed from Dementia; Dystonia to Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2, OMIM:618193; Dystonia
Mode of inheritance for gene: TREM2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Publications for gene TREM2 were changed from to 23318515; 15883308
Source Yorkshire and North East GLH was added to TREM2.
Gene: trem2 has been classified as Green List (High Evidence).
Source NHS GMS was added to TREM2.
Source London North GLH was added to TREM2.
Rebecca Foulger: Gene awaiting curator evaluati
Added phenotypes Dementia for gene: TREM2
gene: TREM2 was added gene: TREM2 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red Mode of inheritance for gene: TREM2 was set to Unknown Phenotypes for gene: TREM2 were set to Dystonia