White matter disorders and cerebral calcification - narrow panel
Gene: TREM2EnsemblGeneIds (GRCh38): ENSG00000095970
EnsemblGeneIds (GRCh37): ENSG00000095970
OMIM: 605086, Gene2Phenotype
TREM2 is in 12 panels
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Details
- Mode of Inheritance
- 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)
- OMIM
- 605086
- Clinvar variants
- Variants in TREM2
- Penetrance
- None
- Publications
- Panels with this gene
-
- Early onset dementia (encompassing fronto-temporal dementia and prion disease)
- Intracerebral calcification disorders
- Early onset dystonia
- White matter disorders and cerebral calcification - narrow panel
- Osteogenesis imperfecta
- Adult onset neurodegenerative disorder
- Adult onset leukodystrophy
- Childhood onset dystonia, chorea or related movement disorder
- Inherited white matter disorders
- Fetal anomalies
- Adult onset dystonia, chorea or related movement disorder
- Skeletal dysplasia
History Filter Activity
Panel promoted to version 1.0
Louise Daugherty (Genomics England Curator)Checked against super panel made up of the panel constituents. Ready to promote to version 1
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Added phenotypes POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY for gene: TREM2
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Ellen McDonagh (Genomics England Curator)gene: TREM2 was added gene: TREM2 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Green Mode of inheritance for gene: TREM2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TREM2 were set to 12080485; 15883308 Phenotypes for gene: TREM2 were set to Calcifications in basal ganglia; Nasu-Hakola disease; Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (PLOSL)