Adult onset dystonia, chorea or related movement disorder
Gene: TREM2EnsemblGeneIds (GRCh38): ENSG00000095970
EnsemblGeneIds (GRCh37): ENSG00000095970
OMIM: 605086, Gene2Phenotype
TREM2 is in 12 panels
2 reviews
Louise Daugherty (Genomics England Curator)
This panel was initially created as a merge of genomic entities from the following Rare Disease 100K panels - Early onset dystonia (v1.76, code 192) - Parkinson Disease and Complex Parkinsonism (v1.64, code 39) - Brain channelopathy (v1.48, code 90) - Structural basal ganglia disorders (v1.10, code 180). This gene was RED and external expert review from South West GLH for GMS Neurology specialist test group for R56 agrees this gene should remain REDCreated: 19 Jun 2019, 4:51 p.m.
Review and rating from Emily Jones (North Bristol NHS Trust) on behalf of South West GLH for GMS Neurology specialist test group.Created: 23 Apr 2019, 12:18 p.m.
Emily Jones (North Bristol NHS Trust)
No indication thata movement disorder would be a presenting feature of the associated disordersCreated: 23 Apr 2019, 12:14 p.m.
Phenotypes
Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2, 618193; Alzheimers disease; Frontotemporal dementia
Publications
Details
- Sources
-
- NHS GMS
- South West GLH
- Expert Review Red
- Phenotypes
-
- Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2, 618193
- Frontotemporal dementia
- Alzheimers disease
- Dystonia
- OMIM
- 605086
- Clinvar variants
- Variants in TREM2
- Penetrance
- None
- Publications
- Panels with this gene
-
- Early onset dementia (encompassing fronto-temporal dementia and prion disease)
- Osteogenesis imperfecta
- Intracerebral calcification disorders
- Early onset dystonia
- White matter disorders and cerebral calcification - narrow panel
- Childhood onset dystonia, chorea or related movement disorder
- Adult onset dystonia, chorea or related movement disorder
- Skeletal dysplasia
- Inherited white matter disorders
- Adult onset neurodegenerative disorder
- Fetal anomalies
- Adult onset leukodystrophy
History Filter Activity
Set Phenotypes, Set publications
Louise Daugherty (Genomics England Curator)Added phenotypes Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2, 618193; Alzheimers disease; Frontotemporal dementia for gene: TREM2 Publications for gene TREM2 were changed from to 26891767
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to TREM2.
Added New Source
Louise Daugherty (Genomics England Curator)Source South West GLH was added to TREM2.
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ellen McDonagh (Genomics England Curator)gene: TREM2 was added gene: TREM2 was added to Adult onset movement disorder. Sources: Expert Review Red Mode of inheritance for gene: TREM2 was set to Phenotypes for gene: TREM2 were set to Dystonia