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Prepair 1000+

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

1 review

Marta Cifuentes Ochoa (Victorian Clinical Genetics Services)

EAST (Epilepsy, Ataxia, Sensorineural deafness, Tubulopathy) or SeSAME (Seizures, Sensorineural deafness, Ataxia, Mental retardation, and Electrolyte imbalance) syndrome is a rare autosomal recessive syndrome

HGNC approved symbol: KCNJ10
Is the phenotype severe and early onset ,18yo? Y
Created: 23 Oct 2024, 1:01 a.m. | Last Modified: 23 Oct 2024, 1:01 a.m.
Panel Version: 1.470

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
SESAME syndrome, MIM# 612780; EAST syndrome, MONDO:0013005; Enlarged vestibular aqueduct, digenic, MIM#600791; autosomal recessive nonsyndromic hearing loss 4, MONDO:0010933

Publications

History Filter Activity

24 Oct 2024, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: kcnj10 has been classified as Green List (High Evidence).

24 Oct 2024, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: KCNJ10 were changed from SESAME syndrome, 612780 (3) to SESAME syndrome, MIM# 612780; EAST syndrome, MONDO:0013005

24 Oct 2024, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: KCNJ10 were set to

1 Jun 2022, Gel status: 3

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 Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: KCNJ10 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: KCNJ10 were set to SESAME syndrome, 612780 (3)