1. Genes and Genomic Entities
  2. FOLR1

FOLR1

folate receptor 1
OMIM: 136430, Gene2Phenotype

16 panels

Panel Reviews Mode of inheritance Details
16 panels
Green FOLR1 in Cerebral folate deficiency

Level 3: Specific metabolic abnormalities
Level 2: Metabolic disorders
Version 1.4

review 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
Green FOLR1 in Neurotransmitter disorders

Level 3: Motor Disorders of the CNS
Level 2: Neurology and neurodevelopmental disorders
Version 1.11

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Neurodegeneration due to cerebral folate transport deficiency, 613068
  • Folate receptor alpha deficiency
Tags
  • treatable
Amber FOLR1 in COVID-19 research


Level 2: Viral research
Version 1.147

review Unknown
Sources
  • Expert Review Amber
  • OMIM
  • Expert list
Green FOLR1 in White matter disorders and cerebral calcification - childhood onset


Level 2: Neurology
Version 8.6
Latest signed off version: v8.0 (6 May 2026)

Component of the following Super Panels:

  • Leukodystrophy, childhood onset
  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    Phenotypes
    • Neurodegeneration due to cerebral folate transport deficiency, 613068
    Green FOLR1 in Ataxia and cerebellar anomalies - childhood onset


    Level 2: Neurology
    Version 9.22
    Latest signed off version: v9.0 (6 May 2026)

    Component of the following Super Panels:

  • Hereditary ataxia and cerebellar anomalies, childhood onset

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    Phenotypes
    • Neurodegeneration due to cerebral folate transport deficiency, 613068
    Green FOLR1 in Hereditary ataxia

    Level 3: Motor Disorders of the CNS
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.345

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • UKGTN
    Phenotypes
    • Neurodegeneration due to cerebral folate transport deficiency, 613068
    Green FOLR1 in Inherited white matter disorders

    Level 3: White matter disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.186

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Emory Genetics Laboratory
    • Radboud University Medical Center, Nijmegen
    • Illumina TruGenome Clinical Sequencing Services
    • UKGTN
    Phenotypes
    • Neurodegeneration due to cerebral folate transport deficiency 613068
    Red FOLR1 in Neurodegenerative disorders, adult onset


    Level 2: Neurology
    Version 9.4
    Latest signed off version: v9.0 (6 May 2026)

    Component of the following Super Panels:

  • Adult-onset neurological disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Wessex and West Midlands GLH
    • Yorkshire and North East GLH
    • NHS GMS
    • London North GLH
    Phenotypes
    • Neurodegeneration due to cerebral folate transport deficiency, 613068
    Green FOLR1 in Undiagnosed metabolic disorders

    Level 3: Specific metabolic abnormalities
    Level 2: Metabolic disorders
    Version 1.645

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Cerebral folate deficiency due to FOLR1 deficiency (Disorders of folate metabolism and transport)
    • Neurodegeneration due to cerebral folate transport deficiency, 613068
    Green FOLR1 in Likely inborn error of metabolism


    Level 2: Metabolic
    Version 9.29
    Latest signed off version: v9.0 (6 May 2026)

    Component of the following Super Panels:

  • Hypotonic infant
  • Leukodystrophy, childhood onset
  • Paediatric disorders
  • Unexplained death in infancy and sudden unexplained death in childhood

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • London North GLH
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • Neurodegeneration due to cerebral folate transport deficiency, 613068
    • Cerebral folate deficiency due to FOLR1 deficiency (Disorders of folate metabolism and transport)
    Green FOLR1 in Fetal anomalies


    Level 2: Fetal (including NIPD)
    Version 7.33
    Latest signed off version: v7.0 (6 May 2026)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • PAGE DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • NEURODEGENERATION DUE TO CEREBRAL FOLATE TRANSPORT DEFICIENCY
    Green FOLR1 in DDG2P


    Version 7.8
    Latest signed off version: v7.0 (6 May 2026)

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • NEURODEGENERATION DUE TO CEREBRAL FOLATE TRANSPORT DEFICIENCY 613068
    Green FOLR1 in Early onset or syndromic epilepsy


    Level 2: Neurology
    Version 9.56
    Latest signed off version: v9.0 (6 May 2026)

    Component of the following Super Panels:

  • Paediatric disorders
  • Unexplained death in infancy and sudden unexplained death in childhood

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Wessex and West Midlands GLH
    • NHS GMS
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Neurodegeneration due to cerebral folate transport deficiency, 613068
    • seizures
    Green FOLR1 in Intellectual disability


    Level 2: Developmental disorders
    Version 10.98
    Latest signed off version: v10.0 (6 May 2026)

    Component of the following Super Panels:

  • Hypotonic infant
  • Leukodystrophy, childhood onset
  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green
    Phenotypes
    • NEURODEGENERATION DUE TO CEREBRAL FOLATE TRANSPORT DEFICIENCY
    Green FOLR1 in Hereditary ataxia, adult onset


    Level 2: Neurology
    Version 9.4
    Latest signed off version: v9.0 (6 May 2026)

    Component of the following Super Panels:

  • Adult-onset neurological disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Wessex and West Midlands GLH
    • Expert Review Green
    • Hereditary ataxia v1.148
    Phenotypes
    • Neurodegeneration due to cerebral folate transport deficiency, 613068
    • Neurodegeneration due to cerebral folate transport deficiency
    Green FOLR1 in Dystonia, chorea or related movement disorder, childhood onset


    Level 2: Neurology
    Version 8.13
    Latest signed off version: v8.0 (6 May 2026)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • PanelApp
    • Expert Review Green
    • London North GLH
    Phenotypes
    • Neurodegeneration due to cerebral folate transport deficiency, 613068
    • Folate receptor alpha deficiency