Early onset or syndromic epilepsy
Gene: KCNB1
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 EIEE 26. Torkamin et al, 2014 - 3 unrealted children EIEE - different de novo het missense variants . All mutations affect the pore domain of the channel and in vitro expression studies showed that they led to a loss of potassium ion channel selectvity with gain of a depolarising inward cation conductance - dom neg effect. De Kovel et al, 2017 - of 26 patients with de delay - 20 had a missense variant in the ion channel domain, and 3 had variats leading to premature stops. 21/25 patients had seizures.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
Epileptic encephalopathy, 616056
Publications
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications
Variants in this GENE are reported as part of current diagnostic practice
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications
Variants in this GENE are reported as part of current diagnostic practice
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications
Variants in this GENE are reported as part of current diagnostic practice
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications
Variants in this GENE are reported as part of current diagnostic practice
Comment when marking as ready: Missense/in frame variants in this gene cause this disorder (G2P).Created: 20 Jan 2016, 12:19 p.m.
Comment on phenotypes: Sourced from OMIM.Created: 20 Jan 2016, 12:16 p.m.
Comment on mode of inheritance: Monoallelic confirmed in G2P. Not on the imprinted gene list.Created: 20 Jan 2016, 12:15 p.m.
Gene added in expert review of the panel by Richard Scott (Genomics England), Manju Kurian (UCL-Institute of Child Health), Natalie Trump (NHS - Great Ormond Street Hospital), Amy McTague (UCL Institute of Child Health).Created: 12 Nov 2015, 4:16 p.m.
Source Wessex and West Midlands GLH was added to KCNB1.
Source NHS GMS was added to KCNB1.
Ellen McDonagh: Gene added in expert review of
NIHRBR-RD Consortium SPEED_v3.0_20170404 was added to KCNB1. Panel: Genetic Epilepsy Syndromes
Victorian Clinical Genetics Services was added to KCNB1. Panel: Genetic Epilepsy Syndromes
KCNB1 was added to Genetic Epilepsy Syndromes panel. Sources: Expert Review Green,Expert Review
KCNB1 was created by Sarah Leigh