SPAST

spastin
OMIM: 604277, Gene2Phenotype

11 panels

Panel Reviews Mode of inheritance Details
11 panels
Amber SPAST in Autism


Version 0.36

review Not set
Sources
  • Expert Review Amber
  • SFARI
Green SPAST in Hereditary spastic paraplegia

Level 3: Motor Disorders of the CNS
Level 2: Neurology and neurodevelopmental disorders
Version 1.308

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Eligibility statement prior genetic testing
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • Expert list
  • UKGTN
Phenotypes
  • Spastic paraplegia 4, autosomal dominant, OMIM:182601
  • hereditary spastic paraplegia 4, MONDO:0008438
Green SPAST in Childhood onset hereditary spastic paraplegia


Version 4.39
Latest signed off version: v4.0 (22 Mar 2023)

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Yorkshire and North East GLH
  • NHS GMS
  • London North GLH
  • Illumina TruGenome Clinical Sequencing Services
  • Eligibility statement prior genetic testing
  • Expert Review Green
  • Expert list
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Spastic paraplegia 4, autosomal dominant, OMIM:182601
  • hereditary spastic paraplegia 4, MONDO:0008438
Green SPAST in Adult onset hereditary spastic paraplegia


Version 3.21
Latest signed off version: v3.14 (31 Jul 2023)

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Yorkshire and North East GLH
  • Expert Review Green
  • NHS GMS
  • London North GLH
Phenotypes
  • Spastic paraplegia 4, autosomal dominant, OMIM:182601
  • hereditary spastic paraplegia 4, MONDO:0008438
Green SPAST in Adult onset neurodegenerative disorder


Version 4.46
Latest signed off version: v4.34 (31 Jul 2023)

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Wessex and West Midlands GLH
  • Yorkshire and North East GLH
  • NHS GMS
  • London North GLH
  • Expert Review Green
Phenotypes
  • Spastic paraplegia 4, autosomal dominant, OMIM:182601
  • hereditary spastic paraplegia 4, MONDO:0008438
Green SPAST in Amyotrophic lateral sclerosis/motor neuron disease

Level 3: Neurodegenerative disorders
Level 2: Neurology and neurodevelopmental disorders
Version 1.69

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Research
  • Literature
Phenotypes
  • Spastic paraplegia 4, autosomal dominant, OMIM:182601
  • hereditary spastic paraplegia 4, MONDO:0008438
Green SPAST in DDG2P


Version 3.79
Latest signed off version: v3.1 (22 Mar 2023)

Component of the following Super Panels:

  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • SPAST-related developmental disorder (monoallelic)
    Green SPAST in Hereditary neuropathy

    Level 3: Motor and Sensory Disorders of the PNS
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.476

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • NHS GMS
    • London North GLH
    • Expert Review Green
    • Emory Genetics Laboratory
    • UKGTN
    Phenotypes
    • Spastic paraplegia 4, autosomal dominant, OMIM:182601
    • hereditary spastic paraplegia 4, MONDO:0008438
    Red SPAST in Intellectual disability - microarray and sequencing

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 5.472
    Latest signed off version: v5.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Red
    • Victorian Clinical Genetics Services
    • BRIDGE study SPEED NEURO Tier1 Gene
    Phenotypes
    • Spastic paraplegia 4, autosomal dominant, 182601
    Amber SPAST in Hereditary neuropathy or pain disorder


    Version 3.83
    Latest signed off version: v3.24 (15 May 2023)

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Amber
    • UKGTN
    • Emory Genetics Laboratory
    • London North GLH
    • NHS GMS
    • NHS GMS
    • London North GLH
    Phenotypes
    • Spastic paraplegia 4, autosomal dominant, OMIM:182601
    • hereditary spastic paraplegia 4, MONDO:0008438
    Green SPAST in Severe Paediatric Disorders


    Version 1.182

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Spastic paraplegia 4, autosomal dominant, OMIM:182601
    • hereditary spastic paraplegia 4, MONDO:0008438