This Panel is marked as Deleted
GMS Musculoskeletal specialist test group Skeletal dysplasia
Gene: TYROBP
TYROBP (TYRO protein tyrosine kinase binding protein)
EnsemblGeneIds (GRCh38): ENSG00000011600
EnsemblGeneIds (GRCh37): ENSG00000011600
OMIM: 604142, Gene2Phenotype
TYROBP is in 10 panels
EnsemblGeneIds (GRCh38): ENSG00000011600
EnsemblGeneIds (GRCh37): ENSG00000011600
OMIM: 604142, Gene2Phenotype
TYROBP is in 10 panels
1 review
Tracy Lester (Genetics laboratory, Oxford UK)
disorganized development of skeletal components gp of SD. bone cysts, green - 7 variants described on HGMD; Review on behalf of Tracy Lester/Michael OldridgeCreated: 6 Mar 2019, 11:52 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Nasu-Hakola disease 221770
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- NHS GMS
- Phenotypes
-
- Nasu-Hakola disease 221770
- OMIM
- 604142
- Clinvar variants
- Variants in TYROBP
- Penetrance
- None
- Panels with this gene
-
- Early onset dementia (encompassing fronto-temporal dementia and prion disease)
- Osteogenesis imperfecta
- Intracerebral calcification disorders
- Osteopetrosis
- Adult onset neurodegenerative disorder
- Fetal anomalies
- Inherited white matter disorders
- White matter disorders and cerebral calcification - narrow panel
- Skeletal dysplasia
- Adult onset leukodystrophy
History Filter Activity
6 Mar 2019, Gel status: 4
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Eleanor Williams (Genomics England Curator)gene: TYROBP was added gene: TYROBP was added to GMS Musculoskeletal specialist test group Skeletal dysplasia. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: TYROBP was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TYROBP were set to Nasu-Hakola disease 221770