Leukodystrophy - adult onset
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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Typically adult-onset disease.
Created: 20 Jun 2020, 7:54 a.m. | Last Modified: 20 Jun 2020, 7:54 a.m.

Panel Version: 0.65

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1, MIM# 221770

Created: 20 Jun 2020, 7:54 a.m.
Last Modified: 20 Jun 2020, 7:54 a.m.
Panel version: 0.65

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Royal Melbourne Hospital

Phenotypes

Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1, 221770

OMIM

604142

Clinvar variants

Variants in TYROBP

Penetrance

None

Panels with this gene

History Filter Activity

20 Jun 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: tyrobp has been classified as Green List (High Evidence).

30 Dec 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

gene: TYROBP was added gene: TYROBP was added to Leukodystrophy - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: TYROBP was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TYROBP were set to Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1, 221770

Leukodystrophy - adult onset Gene: TYROBP