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Fetal anomalies

Gene: KCNJ10

Red List (low evidence)

KCNJ10 (potassium voltage-gated channel subfamily J member 10)
EnsemblGeneIds (GRCh38): ENSG00000177807
EnsemblGeneIds (GRCh37): ENSG00000177807
OMIM: 602208, Gene2Phenotype
KCNJ10 is in 12 panels

1 review

Daniel Flanagan (Victorian Clinical Genetics Services)

Red List (low evidence)

Biallelic KCNJ10 variants cause SESAME syndrome (seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance), multiple families reported. PMID: 19420365 notes "Ultrasonography showed that the kidneys were normal in size, position, and structure."

KCNJ10 and SLC26A4 digenic inheritance proposed for enlarged vestibular aqueduct.
Created: 5 Jan 2022, 3:29 a.m. | Last Modified: 5 Jan 2022, 3:29 a.m.
Panel Version: 0.1849

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
SESAME syndrome (MIM#612780); Enlarged vestibular aqueduct, digenic (MIM#600791)

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Genomics England PanelApp
Phenotypes
  • SESAME syndrome (MIM#612780)
  • Enlarged vestibular aqueduct, digenic (MIM#600791)
OMIM
602208
Clinvar variants
Variants in KCNJ10
Penetrance
None
Publications
Panels with this gene

History Filter Activity

5 Jan 2022, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: kcnj10 has been classified as Red List (Low Evidence).

5 Jan 2022, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: KCNJ10 were changed from SEIZURES-SENSORINEURAL DEAFNESS-ATAXIA-MENTAL RETARDATION-ELECTROLYTE IMBALANCE to SESAME syndrome (MIM#612780); Enlarged vestibular aqueduct, digenic (MIM#600791)

5 Jan 2022, Gel status: 1

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: KCNJ10 were set to

24 Oct 2021, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: KCNJ10 was added gene: KCNJ10 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: KCNJ10 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: KCNJ10 were set to SEIZURES-SENSORINEURAL DEAFNESS-ATAXIA-MENTAL RETARDATION-ELECTROLYTE IMBALANCE