Adult onset neurodegenerative disorder
Gene: TREM2EnsemblGeneIds (GRCh38): ENSG00000095970
EnsemblGeneIds (GRCh37): ENSG00000095970
OMIM: 605086, Gene2Phenotype
TREM2 is in 12 panels
3 reviews
Nick Beauchamp (Sheffield Diagnostic Genetics Service)
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
Louise Daugherty (Genomics England Curator)
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.
James Polke (Neurogenetics Laboratory, Institute of Neurology, London)
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Yorkshire and North East GLH
- Expert Review Green
- NHS GMS
- London North GLH
- Phenotypes
-
- Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2, OMIM:618193
- Dystonia
- OMIM
- 605086
- Clinvar variants
- Variants in TREM2
- Penetrance
- None
- Publications
- Panels with this gene
-
- Fetal anomalies
- Early onset dementia (encompassing fronto-temporal dementia and prion disease)
- Osteogenesis imperfecta
- Intracerebral calcification disorders
- Early onset dystonia
- Childhood onset dystonia, chorea or related movement disorder
- Adult onset dystonia, chorea or related movement disorder
- Adult onset neurodegenerative disorder
- Inherited white matter disorders
- White matter disorders and cerebral calcification - narrow panel
- Skeletal dysplasia
- Adult onset leukodystrophy
History Filter Activity
Set Phenotypes
Ivone Leong (Genomics England Curator)Phenotypes for gene: TREM2 were changed from Dementia; Dystonia to Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2, OMIM:618193; Dystonia
Set mode of inheritance
Louise Daugherty (Genomics England Curator)Mode of inheritance for gene: TREM2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Set publications
Louise Daugherty (Genomics England Curator)Publications for gene TREM2 were changed from to 23318515; 15883308
Added New Source
Louise Daugherty (Genomics England Curator)Source Yorkshire and North East GLH was added to TREM2.
Entity classified by Genomics England curator
Louise Daugherty (Genomics England Curator)Gene: trem2 has been classified as Green List (High Evidence).
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to TREM2.
Added New Source
Louise Daugherty (Genomics England Curator)Source London North GLH was added to TREM2.
Panel promoted to version 1.0
Louise Daugherty (Genomics England Curator)Rebecca Foulger: Gene awaiting curator evaluati
Set Phenotypes
Rebecca Foulger (Genomics England curator)Added phenotypes Dementia for gene: TREM2
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Rebecca Foulger (Genomics England curator)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