Early onset or syndromic epilepsy

Gene: FKRP

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: 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

Red List (low evidence)

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 panel

Created: 15 Nov 2018, 2:54 p.m.

Green List (high evidence)

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