SPG21:Ensemblv90

SPG21, maspardin
OMIM: 608181, ClinGen, DECIPHER

9 panels

Panel Reviews Mode of inheritance Details
9 panels

Green SPG21 in Early-onset Dementia


Level 2: Neurology and neurodevelopmental disorders
Version 1.52

Component of the following Super Panels:

  • Neurodegenerative disease - adult onset
  • Progressive Neurological Conditions
  • 1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Melbourne Genomics Health Alliance Complex Neurology Flagship
    • Victorian Clinical Genetics Services
    Phenotypes
    • Mast syndrome, MIM# 248900
    Tags
    • new gene name

    Green SPG21 in Mendeliome


    Version 1.3802

    1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Mast syndrome, MIM# 248900
    Tags
    • new gene name

    Green SPG21 in Leukodystrophy - adult onset


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.153

    Component of the following Super Panels:

  • Leukodystrophy_Superpanel
  • Progressive Neurological Conditions
  • 2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Mast syndrome 248900
    Tags
    • new gene name

    Green SPG21 in Hereditary Spastic Paraplegia - adult onset


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.17

    Component of the following Super Panels:

  • Neurodegenerative disease - adult onset
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions
  • 1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Royal Melbourne Hospital
    Phenotypes
    • Mast syndrome, 248900
    • Spastic Paraplegia, autosomal recessive
    Tags
    • new gene name

    Green SPG21 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 BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Royal Melbourne Hospital
    • Expert Review Green
    • Expert Review Green
    Phenotypes
    • Mast syndrome, 248900
    • Spastic Paraplegia, autosomal recessive
    Tags
    • new gene name

    Green SPG21 in Early-onset Dementia


    Level 2: Neurology and neurodevelopmental disorders
    Version 2.0

    1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Victorian Clinical Genetics Services
    • Melbourne Genomics Health Alliance Complex Neurology Flagship
    • Expert Review Green
    Phenotypes
    • Mast syndrome, MIM# 248900
    Tags
    • new gene name

    Green SPG21 in Leukodystrophy - adult onset


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.0

    2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert list
    • Expert Review Green
    Phenotypes
    • Mast syndrome 248900
    Tags
    • new gene name

    Green SPG21 in Hereditary Spastic Paraplegia - adult onset


    Level 2: Neurology and neurodevelopmental disorders
    Version 2.0

    1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Royal Melbourne Hospital
    • Expert Review Green
    Phenotypes
    • Mast syndrome, 248900
    • Spastic Paraplegia, autosomal recessive
    Tags
    • new gene name

    Green SPG21 in Hereditary Spastic Paraplegia


    Level 2: Neurology and neurodevelopmental disorders
    Version 2.0

    1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert Review Green
    • Royal Melbourne Hospital
    Phenotypes
    • Mast syndrome, 248900
    • Spastic Paraplegia, autosomal recessive
    Tags
    • new gene name