Early onset or syndromic epilepsy
Gene: FKTN
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
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 associationCreated: 29 Nov 2018, 12:28 p.m.
Comment on publications: added publication to support gene-disease associationCreated: 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 panelCreated: 29 Nov 2018, 12:05 p.m.
Comment on mode of inheritance: Added MOI from external clinical review and publicationsCreated: 29 Nov 2018, 12:01 p.m.
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
Source Wessex and West Midlands GLH was added to FKTN.
Source NHS GMS was added to FKTN.
Zornitza Stark: Seizures are a feature of the
Gene: fktn has been classified as Green List (High Evidence).
Gene: fktn has been classified as Green List (High Evidence).
Publications for gene: FKTN were set to 30220444; 9690476
Phenotypes for gene: FKTN were changed from Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, 253800; seizures to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, 253800; seizures; Walker-warburg syndrome or muscle-eye-brain disease; Fukuyama congenital muscular dystrophy
Publications for gene: FKTN were set to
Phenotypes for gene: FKTN were changed from to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, 253800; seizures
Mode of inheritance for gene: FKTN was changed from to BIALLELIC, autosomal or pseudoautosomal
Expert Review Amber was added to FKTN. Panel: Genetic Epilepsy Syndromes
FKTN was added to Genetic Epilepsy Syndromes panel. Sources: Victorian Clinical Genetics Services
FKTN was created by Sarah Leigh