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  3. TYROBP
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Brain Calcification

Gene: TYROBP

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

2 reviews

Yetong Chen (University of Melbourne)

Green List (high evidence)

Additional cases are found in an old paper.
PMID 11402114 reports 5 patients with homozygous TYROBP variant who had brain calcifications.
Created: 9 May 2023, 1:54 a.m. | Last Modified: 9 May 2023, 1:54 a.m.
Panel Version: 1.83

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

Created: 9 May 2023, 1:54 a.m.
Last Modified: 9 May 2023, 1:54 a.m.
Panel version: 1.83

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Brain calcifications are part of the phenotype.
Sources: Expert list
Created: 24 Jul 2020, 10:05 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

Created: 24 Jul 2020, 10:05 a.m.

Panel version: 0.31

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1, MIM# 221770
OMIM
604142
Clinvar variants
Variants in TYROBP
Penetrance
None
Publications
Panels with this gene

History Filter Activity

9 May 2023, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: TYROBP were set to 30242731

24 Jul 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).

24 Jul 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).

24 Jul 2020, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: TYROBP was added gene: TYROBP was added to Brain Calcification. 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