Intracerebral calcification disorders
Gene: TREM2EnsemblGeneIds (GRCh38): ENSG00000095970
EnsemblGeneIds (GRCh37): ENSG00000095970
OMIM: 605086, Gene2Phenotype
TREM2 is in 12 panels
1 review
Ellen McDonagh (Genomics England Curator)
Comment on list classification: Nasu-Hakola disease (Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy, PLOSL) does include basal ganglia calcifications within the clinical synopsis, though I am unsure whether this should be included on this panel. PMID: 12080485 reports multiple PLOSL patients from different ethnicities with variants identified in this gene and not found in control cohorts. However the publication does not describe basal calcification as one of the clinical manifestations of these patients. In PMID:15883308, basal ganglia calcification on CT is reported in four patients (two are siblings) with homozygous TREM2 variants. In another 2 patients described with TREM2 variants, basal ganglia calcification on CT was not tested for. In the discussion they state "Basal ganglia calcification seems to be an invariable neuroradiologic finding in patients carrying mutations in either TREM2 or DAP12."Created: 7 Dec 2016, 11:30 a.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Emory Genetics Laboratory
- Phenotypes
-
- Calcifications in basal ganglia
- Nasu-Hakola disease
- Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (PLOSL)
- OMIM
- 605086
- Clinvar variants
- Variants in TREM2
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Childhood onset dystonia, chorea or related movement disorder
- Early onset dementia (encompassing fronto-temporal dementia and prion disease)
- Adult onset dystonia, chorea or related movement disorder
- Early onset dystonia
- Intracerebral calcification disorders
- Adult onset leukodystrophy
- Inherited white matter disorders
- Fetal anomalies
- Skeletal dysplasia
- Osteogenesis imperfecta
- Adult onset neurodegenerative disorder
- White matter disorders and cerebral calcification - narrow panel
History Filter Activity
panel promoted to version 1
Ellen McDonagh (Genomics England Curator)19th Dec 2016: panel revised according to expert review and internal curation review.
Gene classified by Genomics England curator
Ellen Thomas (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Ellen Thomas (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Amber List (Moderate Evidence).
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for TREM2 were set to Calcifications in basal ganglia;Nasu-Hakola disease;Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (PLOSL)
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Mode of inheritance for TREM2 was changed to BIALLELIC, autosomal or pseudoautosomal
Set publications
Ellen McDonagh (Genomics England Curator)Publications for TREM2 were set to 15883308;12080485
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
Added New Source
Olivia Niblock (Genomics England Curator)TREM2 was added to Intracerebral calcification disorderspanel. Sources: Emory Genetics Laboratory
Created
Olivia Niblock (Genomics England Curator)TREM2 was created by oniblock