SPG11

SPG11, spatacsin vesicle trafficking associated
OMIM: 610844, Gene2Phenotype

17 panels

Panel Reviews Mode of inheritance Details
17 panels

Green SPG11 in Parkinson Disease and Complex Parkinsonism

Level 3: Neurodegenerative disorders
Level 2: Neurology and neurodevelopmental disorders
Version 1.68

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert
Phenotypes
  • Early Onset Complex Disease
  • hereditary spastic paraparesis
  • early onset parkinsonism, levo dopa responsve
  • Complex parkinsonism

Green SPG11 in Neuromuscular disorders


Version 5.92
Signed off v.5.43 on 4 Mar 2020

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Amyotrophic lateral sclerosis 5, juvenile 602099

Red SPG11 in White matter disorders and cerebral calcification - narrow panel


Version 1.30
Signed off v.1.12 on 2 Mar 2020

Component of the following Super Panels:

  • White matter disorders - childhood onset
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    Phenotypes
    • Spastic paralplegia 11, autosomal recessive, MIM#604360

    Green SPG11 in White matter disorders - adult onset


    Version 1.7
    Signed off v.1.6 on 15 Oct 2020

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    • Yorkshire and North East GLH
    Phenotypes
    • Charcot-Marie-Tooth disease, axonal, type 2X, 616668

    Red SPG11 in Inherited white matter disorders

    Level 3: White matter disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.87

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Expert list
    Phenotypes
    • Spastic paralplegia 11, autosomal recessive, MIM#604360

    Green SPG11 in Hereditary spastic paraplegia

    Level 3: Motor Disorders of the CNS
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.219

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Radboud University Medical Center, Nijmegen
    • UKGTN
    • Illumina TruGenome Clinical Sequencing Services
    • Expert list
    Phenotypes
    • Spastic paraplegia 11, autosomal recessive

    Green SPG11 in Hereditary spastic paraplegia - childhood onset


    Version 2.23
    Signed off v.2.18 on 8 Oct 2020

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Yorkshire and North East GLH
    • NHS GMS
    • London North GLH
    • Illumina TruGenome Clinical Sequencing Services
    • Expert Review Green
    • Expert list
    • UKGTN
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Spastic paraplegia 11, autosomal recessive, 604360

    Green SPG11 in Hereditary spastic paraplegia - adult onset


    Version 1.16
    Signed off v.1.12 on 15 Oct 2020

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Yorkshire and North East GLH
    • Expert Review Green
    • NHS GMS
    • London North GLH
    Phenotypes
    • Spastic paraplegia 11, autosomal recessive, 604360
    • Charcot-Marie-Tooth disease, axonal, type 2X, 616668, AR
    • Amyotrophic lateral sclerosis 5, juvenile, 602099, AR

    Green SPG11 in Neurodegenerative disorders - adult onset


    Version 2.38
    Signed off v.2.31 on 8 Oct 2020

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Wessex and West Midlands GLH
    • Yorkshire and North East GLH
    • NHS GMS
    • London North GLH
    • Expert Review Green
    Phenotypes
    • early onset parkinsonism, levo dopa responsve
    • Spastic paraplegia 11, autosomal recessive
    • Complex parkinsonism
    • hereditary spastic paraparesis
    • Early Onset Complex Disease

    Green SPG11 in Fetal anomalies


    Version 1.162
    Signed off v.1.92 on 21 Aug 2020

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • PAGE DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • SPASTIC PARAPLEGIA-11

    Green SPG11 in Paediatric motor neuronopathies

    Level 3: Motor and Sensory Disorders of the PNS
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.35
    Signed off v.1.30 on 4 Mar 2020

    Component of the following Super Panels:

  • Hypotonic infant
  • Neuromuscular disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • UKGTN
    Phenotypes
    • Amyotrophic lateral sclerosis 5, juvenile 602099

    Green SPG11 in DDG2P


    Version 2.18
    Signed off v.2.2 on 13 Feb 2020

    Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • SPASTIC PARAPLEGIA-11 604360

    Green SPG11 in Hereditary neuropathy

    Level 3: Motor and Sensory Disorders of the PNS
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.381

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • London North GLH
    • Expert Review Green
    • Emory Genetics Laboratory
    Phenotypes
    • Hereditary Neuropathies
    • axonal Charcot-Marie-Tooth disease type 2X

    Green SPG11 in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.714
    Signed off v.3.2 on 13 Feb 2020

    Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Spastic paraplegia 11, autosomal recessive, 604360
    • SPASTIC PARAPLEGIA-11

    Green SPG11 in Adult onset movement disorder


    Version 1.16
    Signed off v.1.14 on 15 Oct 2020

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • London North GLH
    • Expert Review Green
    Phenotypes
    • Complex parkinsonism
    • hereditary spastic paraparesis
    • Early Onset Complex Disease
    • early onset parkinsonism, levo dopa responsve

    Green SPG11 in Hereditary neuropathy NOT PMP22 copy number


    Version 1.19
    Signed off v.1.2 on 27 Feb 2020

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    • London North GLH
    • Emory Genetics Laboratory
    • NHS GMS
    • London North GLH
    Phenotypes
    • Hereditary Neuropathies
    • axonal Charcot-Marie-Tooth disease type 2X

    Green SPG11 in Severe Paediatric Disorders


    Version 1.42

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Spastic paraplegia 11, autosomal recessive, 604360
    • Charcot-Marie-Tooth disease, axonal, type 2X, 616668
    • Amyotrophic lateral sclerosis 5, juvenile, 602099