This Panel is marked as Deleted
Leukodystrophy Victorian Clinical Genetics Services
Gene: FOLR1
FOLR1 (folate receptor 1)
EnsemblGeneIds (GRCh38): ENSG00000110195
EnsemblGeneIds (GRCh37): ENSG00000110195
OMIM: 136430, Gene2Phenotype
FOLR1 is in 16 panels
EnsemblGeneIds (GRCh38): ENSG00000110195
EnsemblGeneIds (GRCh37): ENSG00000110195
OMIM: 136430, Gene2Phenotype
FOLR1 is in 16 panels
0 reviews
Details
- Sources
-
- Victorian Clinical Genetics Services
- Expert Review Green
- OMIM
- 136430
- Clinvar variants
- Variants in FOLR1
- Penetrance
- None
- Panels with this gene
-
- Likely inborn error of metabolism
- COVID-19 research
- Undiagnosed metabolic disorders
- Inherited white matter disorders
- Hereditary ataxia
- Ataxia and cerebellar anomalies - narrow panel
- Hereditary ataxia with onset in adulthood
- Intellectual disability
- Neurotransmitter disorders
- Adult onset neurodegenerative disorder
- Childhood onset dystonia, chorea or related movement disorder
- DDG2P
- Cerebral folate deficiency
- White matter disorders and cerebral calcification - narrow panel
- Early onset or syndromic epilepsy
- Fetal anomalies
History Filter Activity
21 Jun 2018, Gel status: 4
Added New Source
Sarah Leigh (Genomics England Curator)FOLR1 was added to Leukodystrophy Victorian Clinical Genetics Services panel. Sources: Expert Review Green,Victorian Clinical Genetics Services
21 Jun 2018, Gel status: 4
Created
Sarah Leigh (Genomics England Curator)FOLR1 was created by Sarah Leigh