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  3. KCNJ10
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Intellectual_disability

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 12 panels

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Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, andElectrolyte Imbalance Syndrome
  • SESAME syndrome, 612780Enlarged vestibular aqueduct, digenic, 600791
OMIM
602208
Clinvar variants
Variants in KCNJ10
Penetrance
Complete
Panels with this gene

History Filter Activity

21 Oct 2015, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

KCNJ10 was added to Intellectual_disabilitypanel. Source: Radboud University Medical Center, Nijmegen

8 Oct 2015, Gel status: 3

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene KCNJ10 was set to BIALLELIC, autosomal or pseudoautosomal

8 Oct 2015, Gel status: 3

Added New Source

Ellen McDonagh (Genomics England Curator)

KCNJ10 was added to Intellectual_disabilitypanel. Source: Radboud University Medical Center, Nijmegen

8 Oct 2015, Gel status: 2

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene KCNJ10 was set to BIALLELIC, autosomal or pseudoautosomal

8 Oct 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

KCNJ10 was added to Intellectual_disabilitypanel. Source: Illumina TruGenome Clinical Sequencing Services

8 Oct 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

KCNJ10 was added to Intellectual_disabilitypanel. Sources: UKGTN,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen