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Hearing loss

Gene: OSBPL2

Green List (high evidence)

OSBPL2 (oxysterol binding protein like 2)
EnsemblGeneIds (GRCh38): ENSG00000130703
EnsemblGeneIds (GRCh37): ENSG00000130703
OMIM: 606731, Gene2Phenotype
OSBPL2 is in 1 panel

3 reviews

Maria Bitner-Glindzicz (UCL)

Green List (high evidence)

Jun Shen (Harvard Medical School)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
#616340:Deafness, autosomal dominant 67[Hearing loss, sensorineural, mild to profoundTinnitus at onset of high-frequency hearing lossNo vestibular symptoms]

Publications

Damian Smedley (Genomics England Curator)

Comment on list classification: Good evidence from OMIM and expert reviewer
Created: 1 Feb 2016, 4:48 p.m.

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • #616340: Deafness, autosomal dominant 67 [Hearing loss, sensorineural, mild to profound, Tinnitus at onset of high-frequency hearing loss, No vestibular symptoms]
OMIM
606731
Clinvar variants
Variants in OSBPL2
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

17 Feb 2016, Gel status: 4

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for OSBPL2 were set to #616340: Deafness, autosomal dominant 67 [Hearing loss, sensorineural, mild to profound, Tinnitus at onset of high-frequency hearing loss, No vestibular symptoms]

17 Feb 2016, Gel status: 4

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for OSBPL2 were set to PMID: 10588946; 11279184; 11483621; 11735225; 25077649; 25759012; 9872452

1 Feb 2016, Gel status: 4

Gene classified by Genomics England curator

Damian Smedley (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

1 Feb 2016, Gel status: 4

Set Mode of Inheritance

Damian Smedley (Genomics England Curator)

Mode of inheritance for OSBPL2 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

1 Feb 2016, Gel status: 4

Gene classified by Genomics England curator

Damian Smedley (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

24 Jun 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

OSBPL2 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Radboud University Medical Center, Nijmegen