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Hearing loss

Gene: WFS1

Green List (high evidence)

WFS1 (wolframin ER transmembrane glycoprotein)
EnsemblGeneIds (GRCh38): ENSG00000109501
EnsemblGeneIds (GRCh37): ENSG00000109501
OMIM: 606201, Gene2Phenotype
WFS1 is in 24 panels

5 reviews

Lampros Mavrogiannis (Leeds Genetics Laboratory)

Green List (high evidence)

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Maria Bitner-Glindzicz (UCL)

Green List (high evidence)

Ellen McDonagh (Genomics England Curator)

New review confirms gene status and mode of inheritance; no changes required.
Created: 1 Jun 2018, 2:31 p.m.
Comment on mode of inheritance: Changed from monoallelic to both, as Wolfram syndrome is autosomal recessive, and Wolfram-like syndrome is autosomal dominant, and also associated with deafness, autosomal dominant 6/14/38.
Created: 23 Feb 2016, 10:08 a.m.

Jun Shen (Harvard Medical School)

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
#116400:?Cataract 41[Cataract, congenital nuclear]; #125853:{Diabetes mellitus, noninsulin-dependent, association with}[Noninsulin-dependent diabetes mellitus; Late onset; Insulin resistance; Decreased glucose disposal]; #222300:Wolfram syndrome[Growth retardation; Hearing loss, sensorineural; Optic atrophyPigmentary retinopathyPtosisNystagmus; Cardiomyopathy; Testicular atrophy; Hydronephrosis; Hydroureter; Neurogenic bladder; Limited mobility of proximal interphalangeal joint; Mental retardation (in some patients)SeizuresAtaxiaTremorDysphagiaDysarthriaStroke-like episodesPsychiatric disordersBrain atrophy; Diabetes mellitusDiabetes insipidusHypothyroidism; Caused by mutation in the wolframin gene (WFS1,)]; #600965:Deafness, autosomal dominant 6/14/38[Progressive, low frequency sensorineural hearing loss; Caused by mutation in the WFS1 gene ()]; #614296:Wolfram-like syndrome, autosomal dominant[Hearing loss, sensorineural, congenital progressive (affects primarily low- and middle-frequency ranges); Optic atrophyGlaucoma (in some patients); Depression (in some patients)Anxiety (in some patients)Hallucinations (rare)Psychosis (rare)Schizophrenia (rare)Autism (rare); Diabetes mellitus (in some patients)Impaired glucose tolerance (in some patients); Caused by mutation in the wolframin gene (WFS1,)]

Publications

Damian Smedley (Genomics England Curator)

Comment when marking as ready: Expert review and OMIM confirmed
Created: 29 Jan 2016, 5:31 p.m.

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • hearing loss
  • Wolfram syndrome, 222300
  • Nonsyndromic Hearing Loss, Dominant
  • Deafness, autosomal dominant 6/14/38, 600965
  • Wolfram-like syndrome, autosomal dominant, 614296
OMIM
606201
Clinvar variants
Variants in WFS1
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

23 Feb 2016, Gel status: 4

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for WFS1 were set to hearing loss; Wolfram syndrome, 222300; Nonsyndromic Hearing Loss, Dominant; Deafness, autosomal dominant 6/14/38, 600965; Wolfram-like syndrome, autosomal dominant, 614296

23 Feb 2016, Gel status: 4

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for WFS1 were set to PMID: 10521293; 11161832; 11181571; 11260218; 11295831; 11317350; 11709537; 11709538; 12073007; 12107816; 12181639; 12754709; 12913071; 12955714; 14527944; 15056606; 15151504; 16151413; 16195229; 16648378; 16806192; 17492394; 17603484; 17947299; 18544103; 18688868; 18806274; 20069065; 21538838; 23531866; 8595423; 9771706; 9817917

23 Feb 2016, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for WFS1 was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

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 WFS1 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

24 Jun 2015, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

WFS1 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Illumina TruGenome Clinical Sequencing Services,UKGTN,Emory Genetics Laboratory,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 WFS1 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

24 Jun 2015, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

WFS1 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Illumina TruGenome Clinical Sequencing Services,UKGTN,Emory Genetics Laboratory,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 WFS1 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

24 Jun 2015, Gel status: 3

Added New Source

Ellen McDonagh (Genomics England Curator)

WFS1 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Illumina TruGenome Clinical Sequencing Services,UKGTN,Emory Genetics Laboratory,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 WFS1 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

24 Jun 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

WFS1 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Illumina TruGenome Clinical Sequencing Services,UKGTN,Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,Expert

24 Jun 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

WFS1 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Illumina TruGenome Clinical Sequencing Services,UKGTN,Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,Expert