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Deafness_IsolatedAndComplex
Gene: OSBPL2

OSBPL2 (oxysterol binding protein like 2)
EnsemblGeneIds (GRCh38): ENSG00000130703
EnsemblGeneIds (GRCh37): ENSG00000130703
OMIM: 606731, Gene2Phenotype
OSBPL2 is in 4 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

At least three families reported, variants segregated with disease over many generations/family members; animal model.
Created: 28 Jan 2020, 10:25 p.m. | Last Modified: 28 Jan 2020, 10:25 p.m.

Panel Version: 0.237

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Deafness, autosomal dominant 67, MIM# 616340

Publications

Created: 28 Jan 2020, 10:25 p.m.
Last Modified: 28 Jan 2020, 10:25 p.m.
Panel version: 0.237

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Green
Melbourne Genomics Health Alliance Deafness Flagship
Victorian Clinical Genetics Services

Phenotypes

Deafness, autosomal dominant 67, MIM# 616340

OMIM

Clinvar variants

Variants in OSBPL2

Penetrance

None

Publications

Panels with this gene

History Filter Activity

28 Jan 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: OSBPL2 were changed from Deafness, autosomal dominant 67, MIM# 616340 to Deafness, autosomal dominant 67, MIM# 616340

28 Jan 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: osbpl2 has been classified as Green List (High Evidence).

28 Jan 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: OSBPL2 were changed from to Deafness, autosomal dominant 67, MIM# 616340

28 Jan 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: OSBPL2 were set to

28 Jan 2020, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: OSBPL2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: OSBPL2 was added gene: OSBPL2 was added to Deafness_MelbourneGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Deafness Flagship Mode of inheritance for gene: OSBPL2 was set to Unknown