This Panel is marked as Deleted
GMS Musculoskeletal specialist test group Skeletal dysplasia
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
Tracy Lester (Genetics laboratory, Oxford UK)
disorganized development of skeletal components gp of SD, green - many recessive variants identified; Review on behalf of Tracy Lester/Michael OldridgeCreated: 6 Mar 2019, 11:52 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Nasu-Hakola disease 221770
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- NHS GMS
- Phenotypes
-
- Nasu-Hakola disease 221770
- OMIM
- 605086
- Clinvar variants
- Variants in TREM2
- Penetrance
- None
- Panels with this gene
-
- Early onset dementia (encompassing fronto-temporal dementia and prion disease)
- Osteogenesis imperfecta
- Intracerebral calcification disorders
- Early onset dystonia
- Adult onset dystonia, chorea or related movement disorder
- Adult onset neurodegenerative disorder
- Fetal anomalies
- Inherited white matter disorders
- White matter disorders and cerebral calcification - narrow panel
- Skeletal dysplasia
- Adult onset leukodystrophy
- Childhood onset dystonia, chorea or related movement disorder
History Filter Activity
6 Mar 2019, Gel status: 4
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Eleanor Williams (Genomics England Curator)gene: TREM2 was added gene: TREM2 was added to GMS Musculoskeletal specialist test group Skeletal dysplasia. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: TREM2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TREM2 were set to Nasu-Hakola disease 221770