Monogenic hearing loss
Gene: KCNJ10
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
#600791:Enlarged vestibular aqueduct, digenic[Hearing loss, sensorineuralVestibular abnormalities (variable)Enlarged vestibular aqueductCochlear malformation defect (Mondini dysplasia) (less common)]; #612780:SESAME syndrome[Short stature (in some patients); Hearing loss, sensorineural; No hypertension; Salt cravingPolydipsia; Renal potassium wastingRenal sodium wasting; EnuresisPolyuria; SeizuresPsychomotor delayMental retardationAtaxiaSome patients do not achieve ability to walkPoor speech developmentHypotoniaIntention tremorDysdiadochokinesisCerebellar atrophy; Axonal neuropathy (rare)Hypomyelination of sural nerve (rare); Metabolic alkalosis; HypokalemiaHypomagnesemiaHypocalciuriaIncreased plasma reninIncreased plasma aldosterone]
Publications
Comment when marking as ready: Expert review and OMIM confirmedCreated: 29 Jan 2016, 3:41 p.m.
Comment on mode of inheritance: Expert review and OMIM agree no dominant formCreated: 29 Jan 2016, 3:40 p.m.
Causes EAST syndrome/SESAME; very little good evidence for non-syndromic enlarged vestibular aqueduct/Pendred/ nonsyndromic hearing loss.
Disagree with comment above; does not cause dominant non-syndromic hearing lossCreated: 13 Oct 2015, 7:07 p.m.
For Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, and Electrolyte Imbalance Syndrome, the Illumina source of information reports a recessive mode of inheritance for this gene. For Nonsyndromic Hearing Loss, Mixed, a dominant mode of inheritance is reported.Created: 2 Jul 2015, 7:30 a.m.
Phenotypes for KCNJ10 were set to #600791:Enlarged vestibular aqueduct, digenic; #612780:SESAME syndrome; Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, and Electrolyte Imbalance Syndrome; Nonsyndromic Hearing Loss, Mixed
Publications for KCNJ10 were set to PMID:10856114; 11466414; 12618319; 17942730; 19289823; 19420365; 19426954; 20651251; 20807765; 21849804; 22328087; 7580148; 7608203; 9367690
This gene has been classified as Green List (High Evidence).
Mode of inheritance for KCNJ10 was changed to BIALLELIC, autosomal or pseudoautosomal
Model of inheritance for gene KCNJ10 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
KCNJ10 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Illumina TruGenome Clinical Sequencing Services,Emory Genetics Laboratory,UKGTN,Radboud University Medical Center, Nijmegen,Expert
Model of inheritance for gene KCNJ10 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
KCNJ10 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Illumina TruGenome Clinical Sequencing Services,Emory Genetics Laboratory,UKGTN,Radboud University Medical Center, Nijmegen,Expert
Model of inheritance for gene KCNJ10 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
KCNJ10 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Illumina TruGenome Clinical Sequencing Services,Emory Genetics Laboratory,UKGTN,Radboud University Medical Center, Nijmegen,Expert
Model of inheritance for gene KCNJ10 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
KCNJ10 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Illumina TruGenome Clinical Sequencing Services,Emory Genetics Laboratory,UKGTN,Radboud University Medical Center, Nijmegen,Expert
KCNJ10 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Illumina TruGenome Clinical Sequencing Services,Emory Genetics Laboratory,UKGTN,Radboud University Medical Center, Nijmegen,Expert