Hereditary neuropathy or pain disorder
Gene: FOLR1
FOLR1 (folate receptor 1)
EnsemblGeneIds (GRCh38): ENSG00000110195
EnsemblGeneIds (GRCh37): ENSG00000110195
OMIM: 136430, Gene2Phenotype
FOLR1 is in 17 panels
EnsemblGeneIds (GRCh38): ENSG00000110195
EnsemblGeneIds (GRCh37): ENSG00000110195
OMIM: 136430, Gene2Phenotype
FOLR1 is in 17 panels
1 review
Alexander Rossor (UCL Institute of Neurology)
Once case associated with neuropathy. A likely cause of neuropathy as multiple other cerebral folate gene variants also causing neuropathy as part of extended phenotype. Certainly not green at this stage but no good evidence it isn't pathogenic so should not be downgraded to red
Sources: Expert listCreated: 6 Sep 2026, 8:10 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Developmental regression; epilepsy; leukodystrophy; cerebellar atrophy; axonal neuropathy
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Phenotypes
-
- Developmental regression
- epilepsy
- leukodystrophy
- cerebellar atrophy
- axonal neuropathy
- OMIM
- 136430
- Clinvar variants
- Variants in FOLR1
- Penetrance
- None
- Publications
- Panels with this gene
-
- Likely inborn error of metabolism
- White matter disorders and cerebral calcification - childhood onset
- Early onset or syndromic epilepsy
- Hereditary neuropathy or pain disorder
- COVID-19 research
- Undiagnosed metabolic disorders
- Inherited white matter disorders
- Hereditary ataxia
- Neurotransmitter disorders
- Intellectual disability
- Fetal anomalies
- Dystonia, chorea or related movement disorder, childhood onset
- Cerebral folate deficiency
- DDG2P
- Ataxia and cerebellar anomalies - childhood onset
- Neurodegenerative disorders, adult onset
- Hereditary ataxia, adult onset
History Filter Activity
6 Sep 2026, Gel status: 0
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Alexander Rossor (UCL Institute of Neurology)gene: FOLR1 was added gene: FOLR1 was added to Hereditary neuropathy or pain disorder. Sources: Expert list Mode of inheritance for gene: FOLR1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FOLR1 were set to 27743887 Phenotypes for gene: FOLR1 were set to Developmental regression; epilepsy; leukodystrophy; cerebellar atrophy; axonal neuropathy Review for gene: FOLR1 was set to AMBER