Early onset or syndromic epilepsy

Gene: KCNJ10

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

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

• 19420365

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

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

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

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

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.