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Genetic epilepsy syndromes

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 13 panels

7 reviews

Rebecca Foulger (Genomics England curator)

I don't know

Review and rating collated by Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust, 2019_02_06) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group, for Clinical Indication R59 'Early onset or syndromic epilepsy'. Review contributors: John Taylor and Helen Lord. Suggested gene rating: Green.
Created: 6 Aug 2019, 8:38 p.m. | Last Modified: 6 Aug 2019, 8:38 p.m.
Panel Version: 1.189

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

AR SESAME syndrome - comprises seizures sensorineural deafness, ataxia, mental retardation and electrolyte imbalance. Scholl et al 2009 - 5 patients from 4 families - all with seizures 6 diff hom or compound het variants. Bockenhauer et al, 2009 - consang family of Pakistani origin 4 children presented in infancy with generalised tonic-clonic seizures - hom mutation identified, and another child from an unrelated consang Arabic family had a similar presentation. Freudenthal et al, 2011 - 6 patients with genetically confirmed EAST syndrome - characterised by epilepsy from infancy - one patient had consang Algerian parents, 2 sibs were born of consang Indian parents, 2 sibs born of unrelated Afro-Carribean parents and 1 boy with unrelated Iranian parents - 4 diff hom variants identified, in vitro functional studies support pathogenicity.
Created: 6 Aug 2019, 8:31 p.m. | Last Modified: 6 Aug 2019, 8:31 p.m.
Panel Version: 1.188

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Enlarged vestibular aqueduct, digenic, 600791; SESAME syndrome 612780

Publications

Amy McTague (UCL Institute of Child Health)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

  • Scholl et al (2009)

Variants in this GENE are reported as part of current diagnostic practice

Natalie Trump (NHS - Great Ormond Street Hospital)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

  • Scholl et al (2009)

Variants in this GENE are reported as part of current diagnostic practice

Manju Kurian (UCL-Institute of Child Health)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

  • Scholl et al (2009)

Variants in this GENE are reported as part of current diagnostic practice

Richard Scott (North Thames GMC/UCL)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

  • Scholl et al (2009)

Variants in this GENE are reported as part of current diagnostic practice

Ellen McDonagh (Genomics England Curator)

Comment when marking as ready: Confirmed DD gene and all reviewers agree.
Created: 20 Jan 2016, 12:22 p.m.
Comment on phenotypes: Sourced from G2P and OMIM.
Created: 20 Jan 2016, 12:21 p.m.
Comment on mode of inheritance: Confirmed on G2P.
Created: 20 Jan 2016, 12:20 p.m.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Wessex and West Midlands GLH
  • NHS GMS
  • Victorian Clinical Genetics Services
  • Expert
  • Expert Review Green
Phenotypes
  • SEIZURES-SENSORINEURAL DEAFNESS-ATAXIA-MENTAL RETARDATION-ELECTROLYTE IMBALANCE (SESAME)
  • SESAME syndrome
OMIM
602208
Clinvar variants
Variants in KCNJ10
Penetrance
None
Publications
  • Scholl et al (2009)
Panels with this gene

History Filter Activity

6 Aug 2019, Gel status: 3

Added New Source

Rebecca Foulger (Genomics England curator)

Source Wessex and West Midlands GLH was added to KCNJ10.

6 Aug 2019, Gel status: 3

Added New Source

Rebecca Foulger (Genomics England curator)

Source NHS GMS was added to KCNJ10.

11 Dec 2018, Gel status: 4

Panel promoted to version 1.0

Sarah Leigh (Genomics England Curator)

Ellen McDonagh: Comment on mode of inheritance

25 Jun 2018, Gel status: 4

Added New Source

Sarah Leigh (Genomics England Curator)

Victorian Clinical Genetics Services was added to KCNJ10. Panel: Genetic Epilepsy Syndromes

4 Apr 2018, Gel status: 4

Added New Source

Sarah Leigh (Genomics England Curator)

KCNJ10 was added to Genetic Epilepsy Syndromes panel. Sources: Expert Review Green,Expert

4 Apr 2018, Gel status: 4

Created

Sarah Leigh (Genomics England Curator)

KCNJ10 was created by Sarah Leigh