Hereditary ataxia with onset in adulthood
Gene: FOLR1EnsemblGeneIds (GRCh38): ENSG00000110195
EnsemblGeneIds (GRCh37): ENSG00000110195
OMIM: 136430, Gene2Phenotype
FOLR1 is in 16 panels
2 reviews
Louise Daugherty (Genomics England Curator)
Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group.Created: 15 Apr 2019, 10:21 a.m.
Tracy Lester (Genetics laboratory, Oxford UK)
Multiple reports in the literature, positives in our patient cohortCreated: 15 Apr 2019, 10:06 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Neurodegeneration due to cerebral folate transport deficiency
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Wessex and West Midlands GLH
- Expert Review Green
- Hereditary ataxia v1.148
- Phenotypes
-
- Neurodegeneration due to cerebral folate transport deficiency, 613068
- Neurodegeneration due to cerebral folate transport deficiency
- OMIM
- 136430
- Clinvar variants
- Variants in FOLR1
- Penetrance
- None
- Panels with this gene
-
- DDG2P
- Inherited white matter disorders
- COVID-19 research
- Adult onset neurodegenerative disorder
- Likely inborn error of metabolism
- Hereditary ataxia with onset in adulthood
- Neurotransmitter disorders
- Ataxia and cerebellar anomalies - narrow panel
- Cerebral folate deficiency
- Hereditary ataxia
- Early onset or syndromic epilepsy
- Fetal anomalies
- Undiagnosed metabolic disorders
- White matter disorders and cerebral calcification - narrow panel
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
History Filter Activity
Set Phenotypes
Louise Daugherty (Genomics England Curator)Added phenotypes Neurodegeneration due to cerebral folate transport deficiency for gene: FOLR1
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to FOLR1.
Added New Source
Louise Daugherty (Genomics England Curator)Source Wessex and West Midlands GLH was added to FOLR1.
Panel promoted to version 1.0
Louise Daugherty (Genomics England Curator)Checked panel against panel constituents. Ready to promote to version 1.
Set Phenotypes
Louise Daugherty (Genomics England Curator)Phenotypes for gene: FOLR1 were changed from to Neurodegeneration due to cerebral folate transport deficiency, 613068
Created, Added New Source, Set mode of inheritance
Eleanor Williams (Genomics England Curator)gene: FOLR1 was added gene: FOLR1 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green Mode of inheritance for gene: FOLR1 was set to BIALLELIC, autosomal or pseudoautosomal