Intracerebral calcification disorders
Gene: TREM2Comment 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.
19th Dec 2016: panel revised according to expert review and internal curation review.
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
This gene has been classified as Amber List (Moderate Evidence).
Phenotypes for TREM2 were set to Calcifications in basal ganglia;Nasu-Hakola disease;Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (PLOSL)
Mode of inheritance for TREM2 was changed to BIALLELIC, autosomal or pseudoautosomal
Publications for TREM2 were set to 15883308;12080485
This gene has been classified as Red List (Low Evidence).
TREM2 was added to Intracerebral calcification disorderspanel. Sources: Emory Genetics Laboratory
TREM2 was created by oniblock