Early-onset Dementia
Gene: TYROBP

TYROBP (TYRO protein tyrosine kinase binding protein)
EnsemblGeneIds (GRCh38): ENSG00000011600
EnsemblGeneIds (GRCh37): ENSG00000011600
OMIM: 604142, Gene2Phenotype
TYROBP is in 9 panels

1 review

Sangavi Sivagnanasundram (Melbourne Health)

Green List (high evidence)

Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy is characterised by presenile dementia along with large-scale destruction of cancellous bones. It is also known as Nasu-Hakola disease.

PMID: 20301376:
Well established gene disease association reported in multiple families (mainly Japanese and Finnish population) with loss of function as the mechanism of disease.
Created: 16 Aug 2023, 2:44 a.m. | Last Modified: 16 Aug 2023, 2:44 a.m.

Panel Version: 0.179

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1 (MIM#221770)

Publications

20301376

Created: 16 Aug 2023, 2:44 a.m.
Last Modified: 16 Aug 2023, 2:44 a.m.
Panel version: 0.179

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Melbourne Genomics Health Alliance Complex Neurology Flagship
Victorian Clinical Genetics Services

Phenotypes

Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1 (MIM#221770)

OMIM

604142

Clinvar variants

Variants in TYROBP

Penetrance

None

Publications

20301376

Panels with this gene