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  3. DFNB59
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Monogenic hearing loss

Gene: DFNB59

Green List (high evidence)
DFNB59 (pejvakin)
EnsemblGeneIds (GRCh38): ENSG00000204311
EnsemblGeneIds (GRCh37): ENSG00000204311
OMIM: 610219, Gene2Phenotype
DFNB59 is in 2 panels

6 reviews

Ellen McDonagh (Genomics England Curator)

New review confirms gene status and mode of inheritance; no changes required.
Created: 11 Oct 2018, 1:42 p.m.
Created: 11 Oct 2018, 1:42 p.m.

Panel version: 1.43

Lampros Mavrogiannis (Leeds Genetics Laboratory)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Created: 10 Apr 2018, 10:55 a.m.

Panel version: 1.36

Maria Bitner-Glindzicz (UCL)

Green List (high evidence)

Created: 5 Nov 2017, 2:38 a.m.

Panel version: 0

Louise Daugherty (Genomics England Curator)

New approved HGNC gene symbol is PJVK
Created: 4 Jul 2017, 3:53 p.m.
Created: 4 Jul 2017, 3:53 p.m.

Panel version: 1.8

Jun Shen (Harvard Medical School)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
#610220:Deafness, autosomal recessive 59[Hearing loss, sensorineural, (mild to profound)]

Publications

Created: 7 Feb 2016, 8:51 a.m.

Panel version: 0.105

Damian Smedley (Genomics England Curator)

Comment when marking as ready: Expert review and OMIM confirmed
Created: 29 Jan 2016, 3:16 p.m.
Created: 29 Jan 2016, 3:16 p.m.

Panel version: 0.5

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
  • UKGTN
Phenotypes
  • hearing loss
  • Deafness, autosomal recessive 59, 610220
  • Nonsyndromic Hearing Loss, Recessive
Tags
new-gene-name
OMIM
610219
Clinvar variants
Variants in DFNB59
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

17 Feb 2016, Gel status: 4

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for DFNB59 were set to PMID: 16804542; 17301963; 17329413; 17373699; 17718865

29 Jan 2016, Gel status: 4

Gene classified by Genomics England curator

Damian Smedley (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

24 Jun 2015, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene DFNB59 was changed to BIALLELIC, autosomal or pseudoautosomal

24 Jun 2015, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

DFNB59 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: UKGTN,Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Expert

24 Jun 2015, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene DFNB59 was changed to BIALLELIC, autosomal or pseudoautosomal

24 Jun 2015, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

DFNB59 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: UKGTN,Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Expert

24 Jun 2015, Gel status: 3

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene DFNB59 was changed to BIALLELIC, autosomal or pseudoautosomal

24 Jun 2015, Gel status: 3

Added New Source

Ellen McDonagh (Genomics England Curator)

DFNB59 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: UKGTN,Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Expert

24 Jun 2015, Gel status: 2

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene DFNB59 was changed to BIALLELIC, autosomal or pseudoautosomal

24 Jun 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

DFNB59 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: UKGTN,Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Expert

24 Jun 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

DFNB59 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: UKGTN,Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Expert