Ataxia - paediatric
Gene: FOLR1
FOLR1 (folate receptor 1)
EnsemblGeneIds (GRCh38): ENSG00000110195
EnsemblGeneIds (GRCh37): ENSG00000110195
OMIM: 136430, Gene2Phenotype
FOLR1 is in 14 panels
EnsemblGeneIds (GRCh38): ENSG00000110195
EnsemblGeneIds (GRCh37): ENSG00000110195
OMIM: 136430, Gene2Phenotype
FOLR1 is in 14 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
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, 7:09 a.m. | Last Modified: 23 Aug 2020, 7:09 a.m.
Panel Version: 0.3889
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Neurodegeneration due to cerebral folate transport deficiency, MIM# 613068
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Royal Melbourne Hospital
- Expert Review Green
- Victorian Clinical Genetics Services
- 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
-
- Vitamin metabolism disorders
- Neurotransmitter Defects
- Regression
- Mackenzie's Mission_Reproductive Carrier Screening
- Progressive Myoclonic Epilepsy
- Leukodystrophy - paediatric
- Fetal anomalies
- Prepair 1000+
- Mendeliome
- Brain Calcification
- BabyScreen+ newborn screening
- Intellectual disability syndromic and non-syndromic
- Ataxia - paediatric
- Genetic Epilepsy
History Filter Activity
19 Dec 2019, Gel status: 3
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: FOLR1 was added gene: FOLR1 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: FOLR1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FOLR1 were set to Neurodegeneration due to cerebral folate transport deficiency, 613068; Neurodegeneration due to cerebral folate transport deficiency