Early onset or syndromic epilepsy
Gene: KCNQ3
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
AD benign neonatal seizures 2 (BFNS2) - onset of clonic or tonic-clonic seizures in the first few days of life, full remission within a few months of life. Ryan et al, 1991, Lewis et al, 1993 & Charlier et al, 1998 - Large 3 generation Mexican family - 14 individuals with benign neonatal epilepsy (clonic seizures) KCNQ3 missense variant - cosegregated with phenotype. Hirose et al, 2000 - Japanese family - several members had onset in first few weeks of life and dissapeared rapidly in almost all cases - het KCNQ3 missense vasriant in affecteds. Li et al, 2008 - 3 generation Chinese family - 7 had benign neonatal seizures developing at a few days old and remission soon after - het missense variant detected and segregated with the disorder. Fister et al, 213 - mother and daughter of Slovenian descent - developed focal clonic seizures early in life but seizure free not long after - same missense variant detected as that by Li et al, Seen in both affecteds.Created: 6 Aug 2019, 8:31 p.m. | Last Modified: 6 Aug 2019, 8:31 p.m.
Panel Version: 1.188
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Seizures, benign neonatal, 121201
Publications
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Variants in this GENE are reported as part of current diagnostic practice
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Variants in this GENE are reported as part of current diagnostic practice
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Variants in this GENE are reported as part of current diagnostic practice
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Variants in this GENE are reported as part of current diagnostic practice
Comment when marking as ready: A confirmed DD gene, and all reviewers agree this should be green for this panel. Missense/in frame variants in this gene cause the disorder (G2P).Created: 20 Jan 2016, 12:32 p.m.
Comment on phenotypes: Sourced from OMIM.Created: 20 Jan 2016, 12:31 p.m.
Comment on mode of inheritance: Monoallelic confirmed on G2P and OMIM. Not on the imprinted gene list.Created: 20 Jan 2016, 12:30 p.m.
Source Wessex and West Midlands GLH was added to KCNQ3.
Source NHS GMS was added to KCNQ3.
Ellen McDonagh: Comment on mode of inheritance
NIHRBR-RD Consortium SPEED_v3.0_20170404 was added to KCNQ3. Panel: Genetic Epilepsy Syndromes
Victorian Clinical Genetics Services was added to KCNQ3. Panel: Genetic Epilepsy Syndromes
KCNQ3 was added to Genetic Epilepsy Syndromes panel. Sources: Expert Review Green,Expert
KCNQ3 was created by Sarah Leigh