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BabyScreen+ newborn screening

Gene: OTOG

Green List (high evidence)

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

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Assessed as 'strong actionability' in paediatric patients by ClinGen; pre-lingual deafness, may be detected by newborn screening, therefore include.
Created: 30 Dec 2022, 2:18 a.m. | Last Modified: 30 Dec 2022, 2:18 a.m.
Panel Version: 0.1783

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 Green
  • BabySeq Category C gene
Phenotypes
  • Deafness, autosomal recessive 18B - MIM#614945
Tags
deafness
OMIM
604487
Clinvar variants
Variants in OTOG
Penetrance
None
Panels with this gene

History Filter Activity

30 Dec 2022, 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).

30 Dec 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

30 Dec 2022, 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).

30 Dec 2022, Gel status: 1

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag deafness tag was added to gene: OTOG.

18 Sep 2022, 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 gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: OTOG was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: OTOG were set to Deafness, autosomal recessive