Genes in panel
STRs in panel
Prev Next
Regions in panel
Prev Next

Severe Paediatric Disorders

Gene: DFNB59

Green List (high evidence)

DFNB59 (pejvakin)
EnsemblGeneIds (GRCh38): ENSG00000204311
EnsemblGeneIds (GRCh37): ENSG00000204311
OMIM: 610219, Gene2Phenotype
DFNB59 is in 3 panels

1 review

Louise Daugherty (Genomics England Curator)

I don't know

Initial gene list (NGC_genelist-20190823_GREEN_dis_moi_forCuration_20200211.xlsx) collated by Dr Courtney French (University of Cambridge University Hospital NHS Foundation), Dr Karyn Megy (Clinical Feedback Lead, NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation), Dr Alba Sanchis-Juan (NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation) and Lucy Raymond (Professor of Medical Genetics and Neurodevelopment, University of Cambridge University Hospital NHS Foundation). Submitted to the PanelApp resource January 2020 on behalf of the Next Generation Children Project, Addenbrookes' Hospital, Cambridge. Gene Symbol submitted: PJVK; Recommended initial gene rating: Green List (high evidence); Phenotypes: Deafness, autosomal recessive 59, 610220 (3); Mode of inheritance: Autosomal recessive
Created: 20 Feb 2020, 5:23 p.m. | Last Modified: 20 Feb 2020, 5:23 p.m.
Panel Version: 0.12
Added new-gene-name tag, new approved HGNC gene symbol for DFNB59 is PJVK (current gene symbol submitted by Next Generation Children Project)
Created: 17 Feb 2020, 10:42 a.m. | Last Modified: 17 Feb 2020, 10:42 a.m.
Panel Version: 0.7

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Next Generation Children Project
  • Expert Review Green
  • Expert list
Phenotypes
  • Deafness, autosomal recessive 59, 610220
Tags
new-gene-name
OMIM
610219
Clinvar variants
Variants in DFNB59
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 Feb 2020, Gel status: 3

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene