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Deafness_IsolatedAndComplex

Gene: OTOG

Green List (high evidence)

OTOG (otogelin)
EnsemblGeneIds (GRCh38): ENSG00000188162
EnsemblGeneIds (GRCh37): ENSG00000188162
OMIM: 604487, Gene2Phenotype
OTOG is in 5 panels

1 review

Chern Lim (Victorian Clinical Genetics Services)

Green List (high evidence)

LP/P variants in ClinVar: >10 are NMD-predicted variants and only 1 is missense (PMID: 23122587).
Created: 13 Jan 2020, 6:08 a.m. | Last Modified: 13 Jan 2020, 6:08 a.m.
Panel Version: 0.226

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Deafness, autosomal recessive 18B, MIM#614945

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Deafness Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Deafness, autosomal recessive 18B, MIM#614945
OMIM
604487
Clinvar variants
Variants in OTOG
Penetrance
None
Publications
Panels with this gene

History Filter Activity

13 Jan 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

13 Jan 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: OTOG were set to

13 Jan 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: OTOG were changed from to Deafness, autosomal recessive 18B, MIM#614945

13 Jan 2020, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: OTOG was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: OTOG was added gene: OTOG 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: OTOG was set to Unknown