Early onset or syndromic epilepsy

Gene: KCTD3

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. 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)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

• 29406573

Comment on list classification: Promoted from amber to green. No phenotypes are associated with this gene OMIM or Gene2Phenotype.
One study (PMID: 29406573) reported different variants in KCTD3 for 7 probands from 4 consanguineous families who all have epilepsy. The families are from the same geographical location. The study did show that the variants segregated with the phenotype. Two other large (PMID: 27848944, 25558065) screening studies reported 2 probands with the same frameshift KCTD3 variant who have epilepsy. This frameshift variant was also found in one of the probands in PMID: 29406573 article.

Created: 20 Nov 2018, 10:59 a.m.

Green List (high evidence)

7 individuals from 4 consanguineous families described in 29406573 with complex neurological phenotype including EE. Other patients described as part of larger series (27848944, 25558065).

Created: 16 Aug 2018, 1:47 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

• 29406573
• 27848944

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