Early onset or syndromic epilepsy

Gene: KCTD7

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)

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

Phenotypes
Epilepsy, progressive myoclonic , with or without intracellular inclusions, 611726

Publications

• 22693283

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.

Red List (low evidence)

Red List (low evidence)

Red List (low evidence)

Red List (low evidence)