PanelApp (stage)
  1. Genes and Genomic Entities
  2. FOLR1

FOLR1

folate receptor 1
OMIM: 136430, Gene2Phenotype

14 panels

Panel Reviews Mode of inheritance Details
14 panels

Red FOLR1 in Brain Calcification


Level 2: Neurology and neurodevelopmental disorders
Version 1.96

Component of the following Super Panels:

  • Progressive Neurological Conditions

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Expert list
    Phenotypes
    • Neurodegeneration due to cerebral folate transport deficiency, MIM# 613068

    Green FOLR1 in Mendeliome


    Version 1.1891

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Neurodegeneration due to cerebral folate transport deficiency, MIM# 613068

    Green FOLR1 in Neurotransmitter Defects


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.7

    Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • Progressive Neurological Conditions

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Neurodegeneration due to cerebral folate transport deficiency, MIM# 613068

    Green FOLR1 in Genetic Epilepsy


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.33

    Component of the following Super Panels:

  • Progressive Neurological Conditions

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    • Australian Genomics Health Alliance Epilepsy Flagship
    Phenotypes
    • Neurodegeneration due to cerebral folate transport deficiency, MIM# 613068

    Green FOLR1 in Regression


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.556

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Neurodegeneration due to cerebral folate transport deficiency, MIM# 613068

    Green FOLR1 in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.6063

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genetic Health Queensland
    Phenotypes
    • Neurodegeneration due to cerebral folate transport deficiency, MIM# 613068

    Green FOLR1 in Ataxia - paediatric


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.26

    Component of the following Super Panels:

  • Ataxia_Superpanel
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Royal Melbourne Hospital
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Neurodegeneration due to cerebral folate transport deficiency, 613068
    • Neurodegeneration due to cerebral folate transport deficiency

    Green FOLR1 in Leukodystrophy - paediatric


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.308

    Component of the following Super Panels:

  • Leukodystrophy_Superpanel
  • Progressive Neurological Conditions

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Royal Melbourne Hospital
    • Expert Review Green
    Phenotypes
    • Neurodegeneration due to cerebral folate transport deficiency 613068

    Green FOLR1 in Progressive Myoclonic Epilepsy


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.19

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Royal Melbourne Hospital
    • Expert Review Green
    Phenotypes
    • Neurodegeneration due to cerebral folate transport deficiency, 613068
    • seizures

    Green FOLR1 in Mackenzie's Mission_Reproductive Carrier Screening


    Level 2: Screening
    Version 0.109

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Neurodegeneration due to cerebral folate transport deficiency, 613068 (3)

    Red FOLR1 in Fetal anomalies


    Version 1.255

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Genomics England PanelApp
    • Genetic Health Queensland
    Phenotypes
    • Neurodegeneration due to cerebral folate transport deficiency, MIM# 613068

    Green FOLR1 in Prepair 1000+


    Level 2: Screening
    Version 1.9

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Neurodegeneration due to cerebral folate transport deficiency, 613068 (3)

    Green FOLR1 in BabyScreen+ newborn screening


    Level 2: Screening
    Version 1.113

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Neurodegeneration due to cerebral folate transport deficiency, MIM# 613068
    Tags
    • treatable
    • metabolic

    Green FOLR1 in Vitamin metabolism disorders


    Level 2: Metabolic disorders
    Version 1.6

    Component of the following Super Panels:

  • Metabolic Disorders Superpanel

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    Phenotypes
    • Neurodegenerative syndrome due to cerebral folate transport deficiency MONDO:0013110
    • Disorders of folate metabolism