Intracerebral calcification disorders

Gene: TREM2

Green List (high evidence)

TREM2 (triggering receptor expressed on myeloid cells 2)
EnsemblGeneIds (GRCh38): ENSG00000095970
EnsemblGeneIds (GRCh37): ENSG00000095970
OMIM: 605086, Gene2Phenotype
TREM2 is in 13 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.

History Filter Activity

19 Dec 2016, Gel status: 4

panel promoted to version 1

Ellen McDonagh (Genomics England Curator)

19th Dec 2016: panel revised according to expert review and internal curation review.

19 Dec 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen Thomas (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

19 Dec 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen Thomas (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

7 Dec 2016, Gel status: 2

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

7 Dec 2016, Gel status: 1

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)

7 Dec 2016, Gel status: 1

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for TREM2 was changed to BIALLELIC, autosomal or pseudoautosomal

7 Dec 2016, Gel status: 1

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for TREM2 were set to 15883308;12080485

7 Dec 2016, Gel status: 1

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

25 Aug 2016, Gel status: 1

Added New Source

Olivia Niblock (Genomics England Curator)

TREM2 was added to Intracerebral calcification disorderspanel. Sources: Emory Genetics Laboratory

25 Aug 2016, Gel status: 0

Created

Olivia Niblock (Genomics England Curator)

TREM2 was created by oniblock