Osteopetrosis
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)

Red List (low evidence)

Limited evidence reported suggesting that this gene is associated with an osteopetrosis phenotype. No reports in affected individuals - only mouse models.

PMID: 20301376 - fractures dude to polycystic lesions, not osteopetrosis.

PMID: 25547154
Mouse model showing that in the presence of DAP12 deficient gene, the mice developed an osteopetrosis like phenotype.
Variants haven't yet been reported in humans with an osteopterosis like phenotype.
Created: 3 Dec 2024, 4:17 a.m. | Last Modified: 3 Dec 2024, 4:17 a.m.

Panel Version: 0.34

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1 MONDO:0020749

Publications

Created: 3 Dec 2024, 4:17 a.m.
Last Modified: 3 Dec 2024, 4:17 a.m.
Panel version: 0.34

Details

Mode of Inheritance

Unknown

Sources

Victorian Clinical Genetics Services
Expert Review Green

OMIM

604142

Clinvar variants

Variants in TYROBP

Penetrance

None

Panels with this gene

History Filter Activity

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: TYROBP was added gene: TYROBP was added to Osteopetrosis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: TYROBP was set to Unknown

Osteopetrosis Gene: TYROBP