PanelApp
  1. Genes and Genomic Entities
  2. SPAST

SPAST

spastin
OMIM: 604277, ClinGen, DECIPHER

9 panels

Panel Reviews Mode of inheritance Details
9 panels

Green SPAST in Motor Neurone Disease


Level 2: Neurology and neurodevelopmental disorders
Version 1.39

Component of the following Super Panels:

  • Neurodegenerative disease - adult onset
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions

    		•  2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert list

    Green SPAST in Autism


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.233

    		0 reviews Unknown
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green

    Green SPAST in Cerebral Palsy


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.405

    		3 reviews BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Cerebral Palsy MONDO:0006497, SPAST-related

    Green SPAST in Mendeliome


    Version 1.3795

    		2 reviews BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Spastic paraplegia 4, autosomal dominant (MIM#182601), AD
    • Cerebral Palsy MONDO:0006497, SPAST-related, AR

    Red SPAST in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.497

    		1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Red
    • Genetic Health Queensland
    Phenotypes
    • Spastic paraplegia 4, autosomal dominant, MIM# 182601

    Amber SPAST in Leukodystrophy - adult onset


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.153

    Component of the following Super Panels:

  • Leukodystrophy_Superpanel
  • Progressive Neurological Conditions

    		•  1 review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Amber
    • Expert list
    Phenotypes
    • Spastic paraplegia 4, autosomal dominant 182601

    Green SPAST in Hereditary Spastic Paraplegia


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.129

    Component of the following Super Panels:

  • Neuromuscular Superpanel
  • Progressive Neurological Conditions

    		•  1 review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Spastic paraplegia 4, autosomal dominant, MIM# 182601
    • Cerebral Palsy MONDO:0006497, SPAST-related, AR

    Green SPAST 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 Green
    • Royal Melbourne Hospital
    Phenotypes
    • Spastic paraplegia 4, autosomal dominant
    • Spasticity
    • Hereditary Neuropathies

    Red SPAST in Speech apraxia


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.27

    		1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Red
    • Expert Review
    • Expert list
    Phenotypes
    • Spastic paraplegia 4, autosomal dominant, MIM# 182601