Ataxia and cerebellar anomalies - childhood onset
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
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Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- Neurodegeneration due to cerebral folate transport deficiency, 613068
- OMIM
- 136430
- Clinvar variants
- Variants in FOLR1
- Penetrance
- None
- Panels with this gene
-
- Intellectual disability
- White matter disorders and cerebral calcification - childhood onset
- Hereditary ataxia, adult onset
- Likely inborn error of metabolism
- COVID-19 research
- Undiagnosed metabolic disorders
- Inherited white matter disorders
- Hereditary ataxia
- Dystonia, chorea or related movement disorder, childhood onset
- Hereditary neuropathy or pain disorder
- Ataxia and cerebellar anomalies - childhood onset
- Neurotransmitter disorders
- Neurodegenerative disorders, adult onset
- Fetal anomalies
- Cerebral folate deficiency
- Early onset or syndromic epilepsy
- DDG2P
History Filter Activity
9 Jan 2019, Gel status: 4
Panel promoted to version 1.0
Louise Daugherty (Genomics England Curator)Checked against super panel made up of the panel constituents. Ready to promote to version 1.
9 Jan 2019, Gel status: 4
Set Phenotypes
Louise Daugherty (Genomics England Curator)Phenotypes for gene: FOLR1 were changed from to Neurodegeneration due to cerebral folate transport deficiency, 613068
19 Dec 2018, Gel status: 4
Created, Added New Source, Set mode of inheritance
Ellen McDonagh (Genomics England Curator)gene: FOLR1 was added gene: FOLR1 was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert Review Green Mode of inheritance for gene: FOLR1 was set to BIALLELIC, autosomal or pseudoautosomal