Neurotransmitter disorders
Gene: FOLR1EnsemblGeneIds (GRCh38): ENSG00000110195
EnsemblGeneIds (GRCh37): ENSG00000110195
OMIM: 136430, Gene2Phenotype
FOLR1 is in 16 panels
2 reviews
Louise Daugherty (Genomics England Curator)
Comment on list classification: Changed status to Green due to expert review and evidence in the literature to support the phenotypeCreated: 25 May 2017, 10:14 a.m.
Comment on publications: added publications to support phenotype. Associated with phenotype in OMIM and as a confirmed Developmental Disorder Gene / G2P. At least six variants reported four cases.Created: 25 May 2017, 10:13 a.m.
Added treatable tag. Clinical Genomic Database Comments (NIH/NHGRI): Diagnosis is critical, as the natural history includes severe neurodegeneration and neurologic impairment, and treatment with folinic acid (it is important to note that response to such treatment is better when initiated in early childhood) can reverse symptoms and improve brain abnormalities and functionCreated: 25 May 2017, 9:56 a.m.
Manju Kurian (UCL-Institute of Child Health)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- Neurodegeneration due to cerebral folate transport deficiency, 613068
- Folate receptor alpha deficiency
- Tags
- OMIM
- 136430
- Clinvar variants
- Variants in FOLR1
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- White matter disorders and cerebral calcification - narrow panel
- Early onset or syndromic epilepsy
- DDG2P
- Intellectual disability
- 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
- Fetal anomalies
- Undiagnosed metabolic disorders
- Childhood onset dystonia, chorea or related movement disorder
History Filter Activity
panel promoted to version 1
Louise Daugherty (Genomics England Curator)25th May 2017. Panel reviews were assessed, and panel was revised according to reviews and further curation.
Set publications
Louise Daugherty (Genomics England Curator)Publications for FOLR1 were set to 2044715; 21937992; 19732866;27830117
Set Phenotypes
Louise Daugherty (Genomics England Curator)Phenotypes for FOLR1 were set to Neurodegeneration due to cerebral folate transport deficiency, 613068;Folate receptor alpha deficiency
Gene classified by Genomics England curator
Louise Daugherty (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set publications
Louise Daugherty (Genomics England Curator)Publications for FOLR1 were set to 2044715; 21937992;19732866
Set Phenotypes
Louise Daugherty (Genomics England Curator)Phenotypes for FOLR1 were set to Neurodegeneration due to cerebral folate transport deficiency, 613068
Created
Manju Kurian (UCL-Institute of Child Health)FOLR1 was created by Manju
Added New Source
Manju Kurian (UCL-Institute of Child Health)FOLR1 was added to Neurotransmitter disorderspanel. Sources: Literature