Early onset or syndromic epilepsy

Gene: RFT1

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 congenital disorder of glycosylation type In - Stibler et al, 2008 & Imtiaz et al 2010 - patient had features incl seizuures. Vleugels et al, 2009 - 3 unrelated children - 1 of Socttish descent, 1 of consang Italian parents and 1 of consang Algerian parents - severely aff and all had seizures - 3 diff hom missense variants reported all in 1 of the hydrophilic loops predicted to be within the ER lumen, patient fibroblast studies done. Jaeken et al, 2009 - 2 unrelated children - common feature epilepsy - biallelic mutations identified. Ondruska et al, 2012 - 2 sibs born of unrelated Czech parents - 19 & 21 at age of report both had had early onset seizures - both compound het for missense variants - both in the transmemb domain. These patients had a milder phenotype than other patients - due to location of mutation?

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
Congenital disorder of glycosylation type In, 612015

Publications

• 19701946

Comment when marking as ready: Associated with relevant phenotype in OMIM and as probable Gen2Phen gene. At least 7 variants reported in at least 6 unrelated cases in which seizures are a phenotypic feature.

Created: 26 Nov 2018, 4:42 p.m.

Green List (high evidence)

Seizures are part of the phenotype of this metabolic disorder.

Created: 20 Aug 2018, 10:25 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Congenital disorder of glycosylation, type In, MIM#612015

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