White matter disorders and cerebral calcification - childhood onset
Gene: TREM2EnsemblGeneIds (GRCh38): ENSG00000095970
EnsemblGeneIds (GRCh37): ENSG00000095970
OMIM: 605086, Gene2Phenotype
TREM2 is in 12 panels
0 reviews
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
-
- Fetal anomalies
- Leukodystrophy, adult onset
- White matter disorders and cerebral calcification - childhood onset
- Neurodegenerative disorders, adult onset
- Intracerebral calcification disorders
- Early onset dystonia
- Early onset dementia (encompassing fronto-temporal dementia and prion disease)
- Dystonia, chorea or related movement disorder, childhood onset
- Dystonia, chorea or related movement disorder, adult onset
- Skeletal dysplasia
- Osteogenesis imperfecta
- Inherited white matter disorders
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)