Auditory Neuropathy Spectrum Disorde
Gene: DFNB59
DFNB59 (pejvakin)
EnsemblGeneIds (GRCh38): ENSG00000204311
EnsemblGeneIds (GRCh37): ENSG00000204311
OMIM: 610219, Gene2Phenotype
DFNB59 is in 2 panels
EnsemblGeneIds (GRCh38): ENSG00000204311
EnsemblGeneIds (GRCh37): ENSG00000204311
OMIM: 610219, Gene2Phenotype
DFNB59 is in 2 panels
2 reviews
Maria Bitner-Glindzicz (UCL)
Louise Daugherty (Genomics England Curator)
New approved HGNC gene symbol is PJVKCreated: 4 Jul 2017, 3:53 p.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- 610219
- Tags
- OMIM
- 610219
- Clinvar variants
- Variants in DFNB59
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
10 May 2016, Gel status: 4
Gene classified by Genomics England curator
Richard Scott (Genomics England Curator)This gene has been classified as Green List (High Evidence).
10 May 2016, Gel status: 4
Set publications
Richard Scott (Genomics England Curator)Publications for DFNB59 were set to 16804542
10 May 2016, Gel status: 4
Set Phenotypes
Richard Scott (Genomics England Curator)Phenotypes for DFNB59 were set to 610219
10 May 2016, Gel status: 4
Set publications
Richard Scott (Genomics England Curator)Publications for DFNB59 were set to 610219
10 May 2016, Gel status: 4
Gene classified by Genomics England curator
Richard Scott (Genomics England Curator)This gene has been classified as Green List (High Evidence).
24 Sep 2015, Gel status: 0
Added New Source
Maria Bitner-Glindzicz (UCL)DFNB59 was added to Auditory Neuropathy Spectrum Disorder panel. Sources: Expert Review