Inherited white matter disorders
Gene: TYROBPEnsemblGeneIds (GRCh38): ENSG00000011600
EnsemblGeneIds (GRCh37): ENSG00000011600
OMIM: 604142, Gene2Phenotype
TYROBP is in 10 panels
2 reviews
Sarah Leigh (Genomics England Curator)
Comment on list classification: This gene is awaiting curator evaluation and rating.Created: 19 Dec 2018, 1:05 p.m.
Zornitza Stark (Australian Genomics)
Adult-onset early dementia, white matter abnormalities are a prominent feature.Created: 24 Jul 2018, 11:52 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Nasu-Hakola disease, MIM#221770
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- Phenotypes
-
- Nasu-Hakola disease, MIM#221770
- OMIM
- 604142
- Clinvar variants
- Variants in TYROBP
- Penetrance
- None
- Panels with this gene
-
- Early onset dementia (encompassing fronto-temporal dementia and prion disease)
- Osteopetrosis
- Intracerebral calcification disorders
- Adult onset leukodystrophy
- Skeletal dysplasia
- Inherited white matter disorders
- Fetal anomalies
- Osteogenesis imperfecta
- Adult onset neurodegenerative disorder
- White matter disorders and cerebral calcification - narrow panel
History Filter Activity
Entity classified by Genomics England curator
Sarah Leigh (Genomics England Curator)Gene: tyrobp has been classified as Red List (Low Evidence).
Added New Source
Zornitza Stark (Australian Genomics)TYROBP was added to Inherited white matter disorders panel. Sources: Expert list
Created
Zornitza Stark (Australian Genomics)TYROBP was created by Zornitza Stark