Inherited white matter disorders
Gene: TREM2
TREM2 (triggering receptor expressed on myeloid cells 2)
EnsemblGeneIds (GRCh38): ENSG00000095970
EnsemblGeneIds (GRCh37): ENSG00000095970
OMIM: 605086, Gene2Phenotype
TREM2 is in 12 panels
EnsemblGeneIds (GRCh38): ENSG00000095970
EnsemblGeneIds (GRCh37): ENSG00000095970
OMIM: 605086, Gene2Phenotype
TREM2 is in 12 panels
1 review
Zornitza Stark (Australian Genomics)
Adult-onset dementia, white matter abnormalities are a prominent feature.Created: 24 Jul 2018, 11:08 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Nasu-Hakola disease
Publications
Details
- Sources
-
- UKGTN
- Phenotypes
-
- POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY
- OMIM
- 605086
- Clinvar variants
- Variants in TREM2
- Penetrance
- Complete
- Panels with this gene
-
- Early onset dementia (encompassing fronto-temporal dementia and prion disease)
- Osteogenesis imperfecta
- Intracerebral calcification disorders
- Early onset dystonia
- White matter disorders and cerebral calcification - narrow panel
- Childhood onset dystonia, chorea or related movement disorder
- Adult onset dystonia, chorea or related movement disorder
- Skeletal dysplasia
- Inherited white matter disorders
- Adult onset neurodegenerative disorder
- Fetal anomalies
- Adult onset leukodystrophy
History Filter Activity
6 Oct 2016, Gel status: 1
panel promoted to version 1
Ellen McDonagh (Genomics England Curator)6th Oct 2016: Panel promoted to version 1 after expert review and input, further curation and clinical input.
19 May 2016, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)TREM2 was created by ellenmcdonagh
19 May 2016, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)TREM2 was added to Inherited white matter disorderspanel. Sources: UKGTN