Intracerebral calcification disorders
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
Zornitza Stark (Australian Genomics)
Brain calcifications are part of the phenotype.
Sources: Expert listCreated: 24 Jul 2020, 10:06 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1, MIM# 221770
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Phenotypes
-
- Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1, MIM# 221770
- OMIM
- 604142
- Clinvar variants
- Variants in TYROBP
- Penetrance
- None
- Publications
- Panels with this gene
-
- Early onset dementia (encompassing fronto-temporal dementia and prion disease)
- White matter disorders and cerebral calcification - narrow panel
- Osteopetrosis
- Intracerebral calcification disorders
- Adult onset leukodystrophy
- Inherited white matter disorders
- Fetal anomalies
- Skeletal dysplasia
- Osteogenesis imperfecta
- Adult onset neurodegenerative disorder
History Filter Activity
24 Jul 2020, Gel status: 0
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Australian Genomics)gene: TYROBP was added gene: TYROBP was added to Intracerebral calcification disorders. Sources: Expert list Mode of inheritance for gene: TYROBP was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TYROBP were set to 30242731 Phenotypes for gene: TYROBP were set to Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1, MIM# 221770 Review for gene: TYROBP was set to GREEN