Early onset dementia (encompassing fronto-temporal dementia and prion disease)
Gene: TYROBPEnsemblGeneIds (GRCh38): ENSG00000011600
EnsemblGeneIds (GRCh37): ENSG00000011600
OMIM: 604142, Gene2Phenotype
TYROBP is in 10 panels
2 reviews
simon mead (UCL)
Caroline Wright (Genomics England Curator)
Comment on mode of inheritance: OMIMCreated: 10 May 2016, 2:21 p.m.
Comment on list classification: Associated with Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy in ClinVar and OMIM, which progresses to dementiaCreated: 10 May 2016, 2:21 p.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- UKGTN
- Phenotypes
-
- Dementia
- OMIM
- 604142
- Clinvar variants
- Variants in TYROBP
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Early onset dementia (encompassing fronto-temporal dementia and prion disease)
- Osteogenesis imperfecta
- Intracerebral calcification disorders
- White matter disorders and cerebral calcification - narrow panel
- Osteopetrosis
- Skeletal dysplasia
- Inherited white matter disorders
- Adult onset neurodegenerative disorder
- Fetal anomalies
- Adult onset leukodystrophy
History Filter Activity
Gene classified by Genomics England curator
Caroline Wright (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set publications
Caroline Wright (Genomics England Curator)Publications for TYROBP were set to 15049507
Set Mode of Inheritance
Caroline Wright (Genomics England Curator)Mode of inheritance for TYROBP was changed to BIALLELIC, autosomal or pseudoautosomal
Gene classified by Genomics England curator
Caroline Wright (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Added New Source
Ellen McDonagh (Genomics England Curator)TYROBP was added to Early onset dementia (encompassing fronto-temporal dementia and prion disease)panel. Sources: UKGTN