Genetic epilepsy syndromesGene: KCTD7
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 EIEE14 & AD nocturnal frontal lobe epilepsy type 5 (ENFL5). EIEE14 presents as malignant migrating partial seizures of infancy. Barcia et al, 2012 - 4 diff de novo het mutations in KCNT1 - functional work done. Vanderver et al, 2014 - de novo het mutation. Ishii et al, 2013 - 2 unrelated girls - same de novo het missense mutation. ENFL5 - AD focal epilepsy syndrome - childhood onset of motor clusters in sleep - Derry et al, 2008 & Heron et al, 2012 - 4 unrelated families all had het mutations.
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
Epilepsy, progressive myoclonic , with or without intracellular inclusions, 611726
Gene originally listed on the Intellectual disability panel V2.42.
Associated with relevant phenotypes in OMIM and as confirmed Gen2Phen gene. At least 7 variants reported in 6 unrelated cases.
Created: 10 Apr 2018, 9:53 a.m.
Source Wessex and West Midlands GLH was added to KCTD7.
Source NHS GMS was added to KCTD7.
Sarah Leigh: Gene originally listed on the
NIHRBR-RD Consortium SPEED_v3.0_20170404 was added to KCTD7. Panel: Genetic Epilepsy Syndromes
Victorian Clinical Genetics Services was added to KCTD7. Panel: Genetic Epilepsy Syndromes
This gene has been classified as Green List (High Evidence).
Mode of inheritance for KCTD7 was changed from to BIALLELIC, autosomal or pseudoautosomal
Publications for KCTD7 were set to 22693283; 22748208
Phenotypes for KCTD7 were set to Epilepsy, progressive myoclonic 3, with or without intracellular inclusions 611726
KCTD7 was added to Genetic Epilepsy Syndromes panel. Sources: Expert Review Red,Expert
KCTD7 was created by Sarah Leigh