Early onset or syndromic epilepsy
Gene: FKRP
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: Alison Callaway and John Taylor. Suggested gene rating: Red.Created: 6 Aug 2019, 8:38 p.m. | Last Modified: 6 Aug 2019, 8:38 p.m.
Panel Version: 1.189
Almost all reported disease-causing variants in FKRP are associated with limb-girdle muscular dystrophy.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
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) type A 613153; Muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation) type B, 606612; Muscular dystrophy-dystroglycanopathy (limb-girdle) type C, 5, 607155
Comment on publications: MDC1C is a form of congenital muscular dystrophy with mental retardation and structural brain abnormalities and belongs to a group of disorders resulting from defective glycosylation of dystrophin-associated glycoprotein-1, collectively known as dystroglycanopathies. External expert review notes Green status, but there is not enough evidence to date to associate this gene with seizures, even as a secondary phenotype, so I have kept this gene Amber on this panel until further evidence.Created: 30 Nov 2018, 1:54 p.m.
Comment on phenotypes: Added phenotypes suggested from expert review that indicate relevance to inclusion on the Genetic Epilepsy Syndromes panelCreated: 15 Nov 2018, 2:54 p.m.
Seizures are a feature of the dystroglycanopathies.Created: 13 Aug 2018, 11:22 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5, MIM#613153
Variants in this GENE are reported as part of current diagnostic practice
Source Wessex and West Midlands GLH was added to FKRP.
Source NHS GMS was added to FKRP.
Zornitza Stark: Seizures are a feature of the
Gene: fkrp has been classified as Amber List (Moderate Evidence).
Publications for gene: FKRP were set to 14652796; 234206531; 11741828; 11592034
Publications for gene: FKRP were set to 14652796
Phenotypes for gene: FKRP were changed from Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5, 613153; seizures; Walker-warburg syndrome or muscle-eye-brain disease to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5, 613153; seizures; Walker-warburg syndrome or muscle-eye-brain disease; Muscular dystrophy, congenital, 1c
Publications for gene: FKRP were set to
Phenotypes for gene: FKRP were changed from Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5, 613153; seizures to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5, 613153; seizures; Walker-warburg syndrome or muscle-eye-brain disease
Phenotypes for gene: FKRP were changed from Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5, 613153 to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5, 613153; seizures
Mode of inheritance for gene: FKRP was changed from to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FKRP were changed from to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5, 613153
Expert Review Amber was added to FKRP. Panel: Genetic Epilepsy Syndromes
FKRP was added to Genetic Epilepsy Syndromes panel. Sources: Victorian Clinical Genetics Services
FKRP was created by Sarah Leigh