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Hearing loss

Gene: KCNJ10

Green List (high evidence)

KCNJ10 (potassium voltage-gated channel subfamily J member 10)
EnsemblGeneIds (GRCh38): ENSG00000177807
EnsemblGeneIds (GRCh37): ENSG00000177807
OMIM: 602208, Gene2Phenotype
KCNJ10 is in 16 panels

4 reviews

Jun Shen (Harvard Medical School)

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

Damian Smedley (Genomics England Curator)

Comment when marking as ready: Expert review and OMIM confirmed
Created: 29 Jan 2016, 3:41 p.m.
Comment on mode of inheritance: Expert review and OMIM agree no dominant form
Created: 29 Jan 2016, 3:40 p.m.

Maria Bitner-Glindzicz (UCL)

Green List (high evidence)

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 loss
Created: 13 Oct 2015, 7:07 p.m.

Ellen McDonagh (Genomics England Curator)

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.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Emory Genetics Laboratory
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • #600791:Enlarged vestibular aqueduct, digenic
  • #612780:SESAME syndrome
  • Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, and Electrolyte Imbalance Syndrome
  • Nonsyndromic Hearing Loss, Mixed
OMIM
602208
Clinvar variants
Variants in KCNJ10
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

17 Feb 2016, Gel status: 4

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

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

17 Feb 2016, Gel status: 4

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for KCNJ10 were set to PMID:10856114; 11466414; 12618319; 17942730; 19289823; 19420365; 19426954; 20651251; 20807765; 21849804; 22328087; 7580148; 7608203; 9367690

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).

29 Jan 2016, Gel status: 4

Set Mode of Inheritance

Damian Smedley (Genomics England Curator)

Mode of inheritance for KCNJ10 was changed to BIALLELIC, autosomal or pseudoautosomal

24 Jun 2015, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene KCNJ10 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

24 Jun 2015, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

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

24 Jun 2015, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene KCNJ10 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

24 Jun 2015, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

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

24 Jun 2015, Gel status: 3

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene KCNJ10 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

24 Jun 2015, Gel status: 3

Added New Source

Ellen McDonagh (Genomics England Curator)

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

24 Jun 2015, Gel status: 2

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene KCNJ10 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

24 Jun 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

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

24 Jun 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

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