Early onset or syndromic epilepsy
Gene: FOLR1
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 Neurodegeneration due to cerebral folate transport deficiency. Seizures are a feature and treatment with folinic acid therapy can reverse the clinical symptoms. 2 unrelated cases on OMIM 1 - compounbd het for 2 nonesense mutations and another was a hom inframe dup. 19 variants reported on HGMD pro (missense, nonsense, splicing).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
Neurodegeneration due to cerebral folate transport deficiency, 613068
Publications
Comment on list classification: Changed from Amber to Green. Appropriate phenotypes, sufficient cases, and external review comment all support gene-disease association.Created: 29 Nov 2018, 11:58 a.m.
Comment on publications: Added publications to support gene-disease association, and upgrading of the gene to GreenCreated: 29 Nov 2018, 11:57 a.m.
Comment on mode of inheritance: Added MOI from external clinical review and publicationsCreated: 29 Nov 2018, 11:52 a.m.
Comment on phenotypes: Added phenotypes suggested from expert review that indicate relevance to inclusion on the Genetic Epilepsy Syndromes panelCreated: 29 Nov 2018, 11:51 a.m.
Seizures are part of the phenotype.Created: 13 Aug 2018, 11:48 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Neurodegeneration due to cerebral folate transport deficiency, MIM#613068
Variants in this GENE are reported as part of current diagnostic practice
Source Wessex and West Midlands GLH was added to FOLR1.
Source NHS GMS was added to FOLR1.
Zornitza Stark: Seizures are part of the pheno
Gene: folr1 has been classified as Green List (High Evidence).
Gene: folr1 has been classified as Green List (High Evidence).
Publications for gene: FOLR1 were set to
Mode of inheritance for gene: FOLR1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FOLR1 were changed from to Neurodegeneration due to cerebral folate transport deficiency, 613068; seizures
Expert Review Amber was added to FOLR1. Panel: Genetic Epilepsy Syndromes
FOLR1 was added to Genetic Epilepsy Syndromes panel. Sources: Victorian Clinical Genetics Services
FOLR1 was created by Sarah Leigh