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  3. TOP2B
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Deafness_Isolated

Gene: TOP2B

Amber List (moderate evidence)
TOP2B (DNA topoisomerase II beta)
EnsemblGeneIds (GRCh38): ENSG00000077097
EnsemblGeneIds (GRCh37): ENSG00000077097
OMIM: 126431, Gene2Phenotype
TOP2B is in 8 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

One multigenerational family where variant in this gene segregated; two additional variants identified in a cohort; supportive animal model data.
Sources: Literature
Created: 31 Dec 2019, 4:46 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Autosomal dominant deafness

Publications

Created: 31 Dec 2019, 4:46 a.m.

Panel version: Imported from Deafness_IsolatedAndComplex panel version 0.138

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
  • Literature
Phenotypes
  • Autosomal dominant deafness
OMIM
126431
Clinvar variants
Variants in TOP2B
Penetrance
None
Publications
Panels with this gene

History Filter Activity

3 Oct 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: top2b has been classified as Amber List (Moderate Evidence).

21 Jul 2020, Gel status: 2

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: TOP2B was added gene: TOP2B was added to DeafnessIsolated. Sources: Expert Review Amber,Literature Mode of inheritance for gene: TOP2B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: TOP2B were set to 31198993 Phenotypes for gene: TOP2B were set to Autosomal dominant deafness