Early onset or syndromic epilepsy
Gene: RFT1
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 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
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.
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
Source Wessex and West Midlands GLH was added to RFT1.
Source NHS GMS was added to RFT1.
Zornitza Stark: Seizures are part of the pheno
Gene: rft1 has been classified as Green List (High Evidence).
Gene: rft1 has been classified as Green List (High Evidence).
Mode of inheritance for gene: RFT1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RFT1 were set to
Phenotypes for gene: RFT1 were changed from to Congenital disorder of glycosylation, type In, 612015
Expert Review Amber was added to RFT1. Panel: Genetic Epilepsy Syndromes
RFT1 was added to Genetic Epilepsy Syndromes panel. Sources: Victorian Clinical Genetics Services
RFT1 was created by Sarah Leigh