Early onset or syndromic epilepsy
Gene: KCNJ10
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
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
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Publications
Variants in this GENE are reported as part of current diagnostic practice
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Publications
Variants in this GENE are reported as part of current diagnostic practice
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Publications
Variants in this GENE are reported as part of current diagnostic practice
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Publications
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.
Source Wessex and West Midlands GLH was added to KCNJ10.
Source NHS GMS was added to KCNJ10.
Ellen McDonagh: Comment on mode of inheritance
Victorian Clinical Genetics Services was added to KCNJ10. Panel: Genetic Epilepsy Syndromes
KCNJ10 was added to Genetic Epilepsy Syndromes panel. Sources: Expert Review Green,Expert
KCNJ10 was created by Sarah Leigh