Genetic Epilepsy
Gene: FOLR1

FOLR1 (folate receptor 1)
EnsemblGeneIds (GRCh38): ENSG00000110195
EnsemblGeneIds (GRCh37): ENSG00000110195
OMIM: 136430, Gene2Phenotype
FOLR1 is in 14 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Folate is a neurotransmitter precursor. Onset is apparent in late infancy with severe developmental regression, movement disturbances, epilepsy, and leukodystrophy. Recognition and diagnosis of this disorder is critical because folinic acid therapy can reverse the clinical symptoms and improve brain abnormalities and function.
Created: 23 Aug 2020, 7:10 a.m. | Last Modified: 23 Aug 2020, 7:10 a.m.

Panel Version: 0.784

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Neurodegeneration due to cerebral folate transport deficiency, MIM# 613068

Publications

Created: 23 Aug 2020, 7:10 a.m.
Last Modified: 23 Aug 2020, 7:10 a.m.
Panel version: 0.784

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Victorian Clinical Genetics Services
Australian Genomics Health Alliance Epilepsy Flagship

Phenotypes

Neurodegeneration due to cerebral folate transport deficiency, MIM# 613068

OMIM

136430

Clinvar variants

Variants in FOLR1

Penetrance

None

Publications

Panels with this gene