ATL1

atlastin GTPase 1
OMIM: 606439, Gene2Phenotype

8 panels

Panel Reviews Mode of inheritance Details
8 panels

Green ATL1 in Motor Neurone Disease


Level 2: Neurology and neurodevelopmental disorders
Version 1.27

Component of the following Super Panels:

  • Neurodegenerative disease - adult onset
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert Review Green
    • Expert list
    • Victorian Clinical Genetics Services
    Phenotypes
    • Spastic paraplegia 3A, autosomal dominant MIM#182600

    Green ATL1 in Cerebral Palsy


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.389

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Cerebral palsy
    • Spastic paraplegia 3A, autosomal dominant (OMIM 182600 )

    Green ATL1 in Mendeliome


    Version 1.2374

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Neuropathy, hereditary sensory, type ID , MIM#613708
    • MONDO:0013381
    • Spastic paraplegia 3A, MIM 182600
    • Hereditary spastic paraplegia, AR

    Red ATL1 in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.83

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Red
    • Genetic Health Queensland
    Phenotypes
    • Neuropathy, hereditary sensory, type ID, MIM# 613708
    • Spastic paraplegia 3A, autosomal dominant, MIM# 182600

    Green ATL1 in Hereditary Spastic Paraplegia - adult onset


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.11

    Component of the following Super Panels:

  • Hereditary Spastic Paraplegia Superpanel
  • Neurodegenerative disease - adult onset
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions
  • review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    • Royal Melbourne Hospital
    Phenotypes
    • Spastic paraplegia 3A, MIM 182600
    • Hereditary spastic paraplegia, AR

    Green ATL1 in Hereditary Spastic Paraplegia - paediatric


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.87

    Component of the following Super Panels:

  • Hereditary Spastic Paraplegia Superpanel
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions
  • review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Hereditary sensory neuropathy type ID, MIM 613708
    • Spastic paraplegia 3A, MIM 182600
    • Hereditary spastic paraplegia, AR

    Green ATL1 in Hereditary Neuropathy_CMT - isolated


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.52

    Component of the following Super Panels:

  • Hereditary Neuropathy_CMT_IsolatedAndComplex
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Royal Melbourne Hospital
    Phenotypes
    • HSAN/SFN
    • Neuropathy, hereditary sensory, type ID , MIM#613708
    • MONDO:0013381

    Green ATL1 in Pain syndromes


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.34

    Component of the following Super Panels:

  • Progressive Neurological Conditions
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    Phenotypes
    • HSN1D
    • Neuropathy, hereditary sensory, type ID, 613708
    • Hereditary spastic paraplegia, 182600
    • Hereditary sensory neuropathy