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Additional findings_Paediatric

Gene: OTOG

Red List (low evidence)

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

1 review

Lilian Downie (Victorian Clinical Genetics Services)

Green List (high evidence)

Deafness_isolated
Created: 29 Dec 2020, 1:16 a.m. | Last Modified: 29 Dec 2020, 1:16 a.m.
Panel Version: 0.190

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Deafness, autosomal recessive 18B, MIM#614945

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • BabySeq Category C gene
Phenotypes
  • Deafness, autosomal recessive
OMIM
604487
Clinvar variants
Variants in OTOG
Penetrance
None
Panels with this gene

History Filter Activity

27 Aug 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: OTOG was added gene: OTOG was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red Mode of inheritance for gene: OTOG was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: OTOG were set to Deafness, autosomal recessive