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Deafness_IsolatedAndComplex

Gene: OSBPL2

Green List (high evidence)

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

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
606731
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