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  3. DFNB59
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Auditory Neuropathy

Gene: DFNB59

Green List (high evidence)
DFNB59 (pejvakin)
EnsemblGeneIds (GRCh38): ENSG00000204311
EnsemblGeneIds (GRCh37): ENSG00000204311
OMIM: 610219, Gene2Phenotype
DFNB59 is in 6 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

DEFINITIVE by ClinGen, over 50 affected individuals from more than 10 families reported, supportive functional data including animal models.

New HGNC name is PJVK.
Created: 29 Sep 2020, 12:28 a.m. | Last Modified: 29 Sep 2020, 12:28 a.m.
Panel Version: 0.449

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Deafness, autosomal recessive 59, MIM# 610220

Publications

Created: 29 Sep 2020, 12:28 a.m.
Last Modified: 29 Sep 2020, 12:28 a.m.
Panel version: Imported from Deafness_IsolatedAndComplex panel version 0.449

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • Expert Review Green
  • Melbourne Genomics Health Alliance Deafness Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Deafness, autosomal recessive 59 MIM#610220
  • non-syndromic auditory neuropathy spectrum disorder
OMIM
610219
Clinvar variants
Variants in DFNB59
Penetrance
None
Publications
Panels with this gene

History Filter Activity

13 Nov 2020, Gel status: 3

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

Bryony Thompson (Royal Melbourne Hospital)

gene: DFNB59 was added gene: DFNB59 was added to Auditory Neuropathy. Sources: Literature,Expert Review Green Mode of inheritance for gene: DFNB59 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DFNB59 were set to 21176974 Phenotypes for gene: DFNB59 were set to Deafness, autosomal recessive 59 MIM#610220; non-syndromic auditory neuropathy spectrum disorder