Early onset or syndromic epilepsy

Gene: KCNB1

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 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

• 25164438
• 29264397

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Publications

• Torkamani et al (2014) Ann. Neurol. 76: 529-540, 2014

Variants in this GENE are reported as part of current diagnostic practice

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Publications

• Torkamani et al (2014) Ann. Neurol. 76: 529-540, 2014

Variants in this GENE are reported as part of current diagnostic practice

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Publications

• Torkamani et al (2014) Ann. Neurol. 76: 529-540, 2014

Variants in this GENE are reported as part of current diagnostic practice

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Publications

• Torkamani et al (2014) Ann. Neurol. 76: 529-540, 2014

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.