Early onset or syndromic epilepsy

Gene: FKTN

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)

AR muscular dystrophy dystroglycanopathy4 type A - features include characteristic brain and eye malformations, seizures and mental retardation. Yis et al, 2011 - patient 1 - tonic seizures - compound het for a nonsense and an inframe del (Greek and Croatian), patient 2 & 4 - no seizures/epilepsy, patient 3 - generalised seizures - hom missense variant (Turkish). Ishigaki et al, 2018 - national register of patients with FCMD in Japan - 33% 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
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Cardiomyopathy, dilated, 1X 611615; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 253800; Muscular dystrophy-dystroglycanopathy (congenital without mental retardation), type B, 4 613152; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4 611588;

Comment on list classification: Changed from Amber to Green. Appropriate phenotypes, sufficient cases, and external review comment all support gene-disease association

Created: 29 Nov 2018, 12:28 p.m.

Comment on publications: added publication to support gene-disease association

Created: 29 Nov 2018, 12:26 p.m.

Comment on phenotypes: Added phenotypes suggested from expert review that indicate relevance to inclusion on the Genetic Epilepsy Syndromes panel

Created: 29 Nov 2018, 12:05 p.m.

Comment on mode of inheritance: Added MOI from external clinical review and publications

Created: 29 Nov 2018, 12:01 p.m.

Green List (high evidence)

Seizures are a feature of the dystroglyconopathies.

Created: 13 Aug 2018, 11:24 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, MIM#253800

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