Monogenic hearing loss
Gene: WFS1
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
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.
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
Comment when marking as ready: Expert review and OMIM confirmedCreated: 29 Jan 2016, 5:31 p.m.
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
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
Mode of inheritance for WFS1 was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
This gene has been classified as Green List (High Evidence).
Model of inheritance for gene WFS1 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
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
Model of inheritance for gene WFS1 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
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
Model of inheritance for gene WFS1 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
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
Model of inheritance for gene WFS1 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
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
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