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  3. OTOA
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Monogenic hearing loss

Gene: OTOA

Green List (high evidence)
OTOA (otoancorin)
EnsemblGeneIds (GRCh38): ENSG00000155719
EnsemblGeneIds (GRCh37): ENSG00000155719
OMIM: 607038, Gene2Phenotype
OTOA is in 1 panel

5 reviews

Ellen McDonagh (Genomics England Curator)

New review confirms gene status and mode of inheritance; no changes required.
Created: 1 Jun 2018, 2:30 p.m.
Created: 1 Jun 2018, 2:30 p.m.

Panel version: 1.36

Lampros Mavrogiannis (Leeds Genetics Laboratory)

Green List (high evidence)

Possible pseudogene interference
Created: 10 Apr 2018, 4:25 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Created: 10 Apr 2018, 4:25 p.m.

Panel version: 1.36

Maria Bitner-Glindzicz (UCL)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Variants in this GENE are reported as part of current diagnostic practice

Created: 5 Nov 2017, 2:38 a.m.

Panel version: 0

Jun Shen (Harvard Medical School)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
#607039:Deafness, autosomal recessive 22[Deafness, sensorineural, severe to profound affecting all frequencies]

Created: 7 Feb 2016, 8:53 a.m.

Panel version: 0.105

Damian Smedley (Genomics England Curator)

Comment when marking as ready: Expert review and OMIM confirmed
Created: 29 Jan 2016, 4:07 p.m.
Created: 29 Jan 2016, 4:07 p.m.

Panel version: 0.11

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
  • UKGTN
Phenotypes
  • hearing loss
  • #607039: Deafness, autosomal recessive 22 [Deafness, sensorineural, severe to profound affecting all frequencies]
OMIM
607038
Clinvar variants
Variants in OTOA
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 OTOA were set to hearing loss; #607039: Deafness, autosomal recessive 22 [Deafness, sensorineural, severe to profound affecting all frequencies]

17 Feb 2016, Gel status: 4

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for OTOA were set to PMID:11972037; 19888295; 23173898

1 Feb 2016, Gel status: 4

Set Mode of Inheritance

Damian Smedley (Genomics England Curator)

Mode of inheritance for OTOA was changed to BIALLELIC, autosomal or pseudoautosomal

29 Jan 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: 3

Added New Source

Ellen McDonagh (Genomics England Curator)

OTOA was added to Congenital hearing impairment (Profound/Severe)panel. Sources: UKGTN,Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,Expert

24 Jun 2015, Gel status: 3

Added New Source

Ellen McDonagh (Genomics England Curator)

OTOA was added to Congenital hearing impairment (Profound/Severe)panel. Sources: UKGTN,Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,Expert

24 Jun 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

OTOA was added to Congenital hearing impairment (Profound/Severe)panel. Sources: UKGTN,Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,Expert

24 Jun 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

OTOA was added to Congenital hearing impairment (Profound/Severe)panel. Sources: UKGTN,Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,Expert