Deafness_Isolated
Gene: DFNB59

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
Victorian Clinical Genetics Services
Melbourne Genomics Health Alliance Deafness Flagship
Melbourne Genomics Health Alliance Deafness Flagship
Victorian Clinical Genetics Services

Phenotypes

Deafness, autosomal recessive 59, MIM# 610220

OMIM

610219

Clinvar variants

Variants in DFNB59

Penetrance

None

Publications

Panels with this gene