Brain Calcification
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
Yetong Chen (University of Melbourne)
Limited evidence supports the causal role of the FOLR1 gene in brain calcification since there are only 2 patients reported.
PMID 24556562 reports a patient with a homozygous variant of FOLR1 (c.610C>T, p.Arg204) who had bilateral calcification within the basal ganglia.
PMID 27378809 reports a patient with a homozygous variant of FOLR1 (c.562C.G, p.Leu188Val) who had brain calcification.
Sources: Expert listCreated: 8 Apr 2023, 9:54 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- Phenotypes
-
- Neurodegeneration due to cerebral folate transport deficiency, MIM# 613068
- OMIM
- 136430
- Clinvar variants
- Variants in FOLR1
- Penetrance
- None
- Publications
- 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
2 May 2023, Gel status: 1
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: folr1 has been classified as Red List (Low Evidence).
2 May 2023, Gel status: 1
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: FOLR1 were changed from to Neurodegeneration due to cerebral folate transport deficiency, MIM# 613068
2 May 2023, Gel status: 1
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: folr1 has been classified as Red List (Low Evidence).
8 Apr 2023, Gel status: 0
Created, Added New Source, Set mode of inheritance, Set publications
Yetong Chen (University of Melbourne)gene: FOLR1 was added gene: FOLR1 was added to Brain Calcification. Sources: Expert list Mode of inheritance for gene: FOLR1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FOLR1 were set to 24556562; 27378809 Review for gene: FOLR1 was set to RED