IFRD1:Ensemblv90

interferon related developmental regulator 1
OMIM: 603502, ClinGen, DECIPHER

8 panels

Panel Reviews Mode of inheritance Details
8 panels

Red IFRD1 in Mendeliome


Version 1.3802

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Expert Review
Phenotypes
  • Hereditary spastic paraplegia MONDO:0019064, IFRD1-related

Red IFRD1 in Ataxia - adult onset


Level 2: Neurology and neurodevelopmental disorders
Version 1.62

Component of the following Super Panels:

  • Neurodegenerative disease - adult onset
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions
  • 2 reviews MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Red
    • Expert Review
    • Expert Review Red
    • Literature
    Phenotypes
    • Hereditary spastic paraplegia MONDO:0019064, IFRD1-related

    Red IFRD1 in Ataxia


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.162

    Component of the following Super Panels:

  • Ataxia_Superpanel
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions
  • 2 reviews MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Literature
    • Expert Review Red
    • Expert Review
    • Expert Review Red
    • Expert Review Red
    • Expert Review
    • Expert Review Red
    • Literature
    Phenotypes
    • Hereditary spastic paraplegia MONDO:0019064, IFRD1-related

    Red IFRD1 in Hereditary Spastic Paraplegia


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.130

    Component of the following Super Panels:

  • Hereditary Spastic Paraplegia Superpanel
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions
  • 1 review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Red
    • Royal Melbourne Hospital
    Phenotypes
    • Hereditary spastic paraplegia MONDO:0019064, IFRD1-related
    Tags
    • refuted

    Red IFRD1 in Hereditary Neuropathy - complex


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.45

    Component of the following Super Panels:

  • Hereditary Neuropathy_CMT_IsolatedAndComplex
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions
  • 1 review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Red
    • Royal Melbourne Hospital
    Phenotypes
    • Hereditary spastic paraplegia MONDO:0019064, IFRD1-related
    Tags
    • refuted

    Red IFRD1 in Ataxia - adult onset


    Level 2: Neurology and neurodevelopmental disorders
    Version 2.0

    2 reviews MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Literature
    • Expert Review Red
    • Expert Review
    • Expert Review Red
    Phenotypes
    • Hereditary spastic paraplegia MONDO:0019064, IFRD1-related

    Red IFRD1 in Hereditary Spastic Paraplegia


    Level 2: Neurology and neurodevelopmental disorders
    Version 2.0

    1 review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Royal Melbourne Hospital
    • Expert Review Red
    Phenotypes
    • Hereditary spastic paraplegia MONDO:0019064, IFRD1-related
    Tags
    • refuted

    Red IFRD1 in Hereditary Neuropathy - complex


    Level 2: Neurology and neurodevelopmental disorders
    Version 2.0

    1 review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Royal Melbourne Hospital
    • Expert Review Red
    Phenotypes
    • Hereditary spastic paraplegia MONDO:0019064, IFRD1-related
    Tags
    • refuted