FOLR1

folate receptor 1
OMIM: 136430, Gene2Phenotype

18 panels

Panel Reviews Mode of inheritance Details
18 panels

Green FOLR1 in Cerebral folate deficiency

Level 3: Specific metabolic abnormalities
Level 2: Metabolic disorders
Version 1.2

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 1.6

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 1.76

review Unknown
Sources
  • Expert Review Amber
  • OMIM
  • Expert list

Green FOLR1 in White matter disorders and cerebral calcification - narrow panel


Version 1.32
Latest signed off version: v1.12 (2 Mar 2020)

Component of the following Super Panels:

  • White matter disorders - childhood onset
  • 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 - narrow panel


    Version 2.65
    Latest signed off version: v2.64 (16 Dec 2021)

    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 1.232

    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 1.87

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

    Red FOLR1 in Neurodegenerative disorders - adult onset


    Version 2.57
    Latest signed off version: v2.56 (16 Dec 2021)

    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 1.450

    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 Inborn errors of metabolism


    Version 2.105
    Latest signed off version: v2.104 (16 Dec 2021)

    Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • 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


    Version 1.638
    Latest signed off version: v1.637 (30 Jun 2021)

    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 2.21
    Latest signed off version: v2.2 (13 Feb 2020)

    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 Genetic epilepsy syndromes

    Level 3: Inherited Epilepsy Syndromes
    Level 2: Neurology and neurodevelopmental disorders
    Version 2.312
    Latest signed off version: v2.311 (16 Dec 2021)

    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 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.1002
    Latest signed off version: v3.1001 (16 Dec 2021)

    Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • 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


    Version 2.36
    Latest signed off version: v2.35 (16 Dec 2021)

    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 Childhood onset dystonia or chorea or related movement disorder


    Version 1.87
    Latest signed off version: v1.86 (16 Dec 2021)

    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

    Green FOLR1 in Severe Paediatric Disorders


    Version 1.66

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Neurodegeneration due to cerebral folate transport deficiency, 613068

    Green FOLR1 in NewbornFullV1


    Version 0.1

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green