1. Genes and Genomic Entities
  2. TREM2

TREM2

triggering receptor expressed on myeloid cells 2
OMIM: 605086, Gene2Phenotype

12 panels

Panel Reviews Mode of inheritance Details
12 panels
Red TREM2 in Early onset dementia (encompassing fronto-temporal dementia and prion disease)

Level 3: Neurodegenerative disorders
Level 2: Neurology and neurodevelopmental disorders
Version 1.84

review Not set
Sources
  • UKGTN
Phenotypes
  • Dementia
Red TREM2 in Early onset dystonia

Level 3: Motor Disorders of the CNS
Level 2: Neurology and neurodevelopmental disorders
Version 1.152

review Not set
Sources
  • Emory Genetics Laboratory
Phenotypes
  • Dystonia
Green TREM2 in White matter disorders and cerebral calcification - narrow panel


Level 2: Neurology
Version 7.11
Latest signed off version: v7.0 (30 Apr 2025)

Component of the following Super Panels:

  • Childhood onset leukodystrophy

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    Phenotypes
    • POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY
    • Calcifications in basal ganglia
    • Nasu-Hakola disease
    • Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (PLOSL)
    Green TREM2 in Adult onset leukodystrophy


    Level 2: Neurology
    Version 6.8
    Latest signed off version: v6.0 (30 Apr 2025)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    • Yorkshire and North East GLH
    Phenotypes
    • Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2, 618193
    Green TREM2 in Intracerebral calcification disorders

    Level 3: Parenchymal brain disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.36

    		review 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)
    Red TREM2 in Inherited white matter disorders

    Level 3: White matter disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.186

    		review Not set
    Sources
    • UKGTN
    Phenotypes
    • POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY
    Green TREM2 in Skeletal dysplasia


    Level 2: Musculoskeletal
    Version 8.33
    Latest signed off version: v8.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    • Illumina TruGenome Clinical Sequencing Services
    • Radboud University Medical Center, Nijmegen
    • Expert list
    • UKGTN
    • Emory Genetics Laboratory
    Phenotypes
    • Nasu-Hakola disease 221770
    Green TREM2 in Adult onset neurodegenerative disorder


    Level 2: Neurology
    Version 8.11
    Latest signed off version: v8.0 (30 Apr 2025)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Yorkshire and North East GLH
    • Expert Review Green
    • NHS GMS
    • London North GLH
    Phenotypes
    • Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2, OMIM:618193
    • Dystonia
    Red TREM2 in Fetal anomalies


    Level 2: Fetal (including NIPD)
    Version 6.140
    Latest signed off version: v6.0 (30 Apr 2025)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • NHS GMS
    Phenotypes
    • Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2, OMIM:618193
    Red TREM2 in Osteogenesis imperfecta


    Level 2: Musculoskeletal
    Version 5.4
    Latest signed off version: v5.0 (30 Apr 2025)

    		review Not set
    Sources
    • Emory Genetics Laboratory
    Phenotypes
    • Osteogenesis Imperfecta and Decreased Bone Density
    • skeletal dysplasias
    Red TREM2 in Adult onset dystonia, chorea or related movement disorder


    Level 2: Neurology
    Version 5.3
    Latest signed off version: v5.0 (30 Apr 2025)

    		review Not set
    Sources
    • NHS GMS
    • South West GLH
    • Expert Review Red
    Phenotypes
    • Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2, 618193
    • Frontotemporal dementia
    • Alzheimers disease
    • Dystonia
    Red TREM2 in Childhood onset dystonia, chorea or related movement disorder


    Level 2: Neurology
    Version 7.13
    Latest signed off version: v7.0 (30 Apr 2025)

    		review Not set
    Sources
    • South West GLH
    Phenotypes
    • Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2, 618193
    • Alzheimers disease
    • Frontotemporal dementia