Early onset or syndromic epilepsy

Gene: KCNC1

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 progressive myoclonic epilepsy 7 - characterised by onset of severe progressive myoclonis and infrequent tonic clonic seizures in the 1st or 2nd decades of life. Muona et al, 2015 - 13 unrelated patients (presented between 6 and 14 years of age). Found to have arisen de novo in 12 probands, In the other proband she had an aff sib and two aff children who all carried the variant (of note probands parents both unaff and mutation neg and mosaicism not suggested). The same de novo variant ws identifed in all (R320H). In vitro functional expression studies showed that the mutation caused a loss of channel function wih dom neg effect. Of note two other variants in this gene reported on pubmed in assoc with ID and no epilepsy.

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
Epilepsy, progressive myoclonic, 616187

Publications

• 25401298

Gene originally listed on the Intellectual disability panel V2.42.
Associated with relevant phenotypes in OMIM and as confirmed Gen2Phen gene. One variants reported in at least 11 unrelated cases from different ethnic backgrounds.

Created: 10 Apr 2018, 9:46 a.m.

Red List (low evidence)

Publications

• Muona et al (2015) Nat Genet 47(1): 39-46

Red List (low evidence)

Publications

• Muona et al (2015) Nat Genet 47(1): 39-46

Red List (low evidence)

Publications

• Muona et al (2015) Nat Genet 47(1): 39-46

Red List (low evidence)

Publications

• Muona et al (2015) Nat Genet 47(1): 39-46

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.