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Hearing loss

Gene: TOP2B

No list

TOP2B (DNA topoisomerase II beta)
EnsemblGeneIds (GRCh38): ENSG00000077097
EnsemblGeneIds (GRCh37): ENSG00000077097
OMIM: 126431, Gene2Phenotype
TOP2B is in 2 panels

1 review

Zornitza Stark (Australian Genomics)

One multigenerational family where variant in this gene segregated with deafness; two additional variants identified in a cohort; supportive animal model data.
Sources: Expert list
Created: 2 Jan 2020, 5:50 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)

Phenotypes
Deafness, autosomal dominant

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Sources
Phenotypes
  • Deafness, autosomal dominant
OMIM
126431
Clinvar variants
Variants in TOP2B
Penetrance
None
Publications
Panels with this gene

History Filter Activity

2 Jan 2020, Gel status: 0

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

Zornitza Stark (Australian Genomics)

gene: TOP2B was added gene: TOP2B was added to Hearing loss. Sources: Expert list Mode of inheritance for gene: TOP2B was set to MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed) Publications for gene: TOP2B were set to 31198993 Phenotypes for gene: TOP2B were set to Deafness, autosomal dominant