Leukodystrophy - adult onset

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 9 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Adult-onset disorder.
Created: 3 May 2020, 7:46 a.m. | Last Modified: 3 May 2020, 7:46 a.m.
Panel Version: 0.32

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2, MIM# 618193

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2, 618193
OMIM
605086
Clinvar variants
Variants in TREM2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

3 May 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: trem2 has been classified as Green List (High Evidence).

3 May 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: TREM2 were set to

30 Dec 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

gene: TREM2 was added gene: TREM2 was added to Leukodystrophy - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: TREM2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TREM2 were set to Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2, 618193