Cerebral folate deficiency
Gene: FOLR1EnsemblGeneIds (GRCh38): ENSG00000110195
EnsemblGeneIds (GRCh37): ENSG00000110195
OMIM: 136430, Gene2Phenotype
FOLR1 is in 16 panels
3 reviews
Siddharth Banka banka (Univesrsity of Manchester)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Cerebral folate transport deficiency
Publications
- PMID: 19732866
Variants in this GENE are reported as part of current diagnostic practice
Sarah Leigh (Genomics England Curator)
Comment when marking as ready: Associated with phenotype in OMIM and as a confirmed Developmental Disorder Gene / G2P. At least six variants reported four cases.Created: 6 Dec 2016, 3:44 p.m.
Helen Savage (Congenica Ltd)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Cerebral folate transport deficiency
Publications
- PMID: 19732866
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Emory Genetics Laboratory
- Illumina TruGenome Clinical Sequencing Services
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- Neurodegeneration due to cerebral folate transport deficiency, 613068
- OMIM
- 136430
- Clinvar variants
- Variants in FOLR1
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Intellectual disability
- White matter disorders and cerebral calcification - narrow panel
- Undiagnosed metabolic disorders
- Early onset or syndromic epilepsy
- DDG2P
- COVID-19 research
- Inherited white matter disorders
- Fetal anomalies
- Adult onset neurodegenerative disorder
- Ataxia and cerebellar anomalies - narrow panel
- Likely inborn error of metabolism
- Neurotransmitter disorders
- Hereditary ataxia with onset in adulthood
- Cerebral folate deficiency
- Childhood onset dystonia, chorea or related movement disorder
- Hereditary ataxia
History Filter Activity
panel promoted to version 1
Sarah Leigh (Genomics England Curator)Promoted after searching for additional genes, none found (8/12/2016)
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set publications
Sarah Leigh (Genomics England Curator)Publications for FOLR1 were set to 19732866; 27604308; 27743887; 27328863
Set publications
Sarah Leigh (Genomics England Curator)Publications for FOLR1 were set to 19732866; 27604308; 27743887
Set publications
Sarah Leigh (Genomics England Curator)Publications for FOLR1 were set to 19732866; 27604308
Set publications
Sarah Leigh (Genomics England Curator)Publications for FOLR1 were set to 19732866
Added New Source
Eik Haraldsdottir (Genomics England)FOLR1 was added to Cerebral folate deficiencypanel. Sources: Emory Genetics Laboratory
Added New Source
Eik Haraldsdottir (Genomics England)FOLR1 was added to Cerebral folate deficiencypanel. Sources: Illumina TruGenome Clinical Sequencing Services
Added New Source
Eik Haraldsdottir (Genomics England)FOLR1 was added to Cerebral folate deficiencypanel. Sources: Radboud University Medical Center, Nijmegen