SPG11

SPG11, spatacsin vesicle trafficking associated
OMIM: 610844, Gene2Phenotype

18 panels

Panel Reviews Mode of inheritance Details
18 panels

Green SPG11 in Parkinson Disease and Complex Parkinsonism

Level 3: Neurodegenerative disorders
Level 2: Neurology and neurodevelopmental disorders
Version 1.70

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 5.243
Latest signed off version: v5.43 (4 Mar 2020)

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

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


Version 1.208
Latest signed off version: v1.12 (2 Mar 2020)

Component of the following Super Panels:

  • White matter disorders - childhood onset
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    Phenotypes
    • Spastic paralplegia 11, autosomal recessive, OMIM:604360
    Tags
    • Q2_21_rating

    Green SPG11 in White matter disorders - adult onset


    Version 1.31
    Latest signed off version: v1.25 (5 Aug 2021)

    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 1.141

    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 1.259

    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 2.84
    Latest signed off version: v2.18 (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 1.73
    Latest signed off version: v1.27 (5 Aug 2021)

    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 2.201
    Latest signed off version: v2.178 (5 Aug 2021)

    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, OMIM:604360
    • Complex parkinsonism
    • hereditary spastic paraparesis
    • Amyotrophic lateral sclerosis 5, juvenile, OMIM:602099

    Green SPG11 in Fetal anomalies


    Version 1.735
    Latest signed off version: v1.92 (21 Aug 2020)

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

    No list SPG11 in Amyotrophic lateral sclerosis/motor neuron disease

    Level 3: Neurodegenerative disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.39

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Literature
    Phenotypes
    • Amyotrophic lateral sclerosis 5, juvenile

    Green SPG11 in Paediatric motor neuronopathies

    Level 3: Motor and Sensory Disorders of the PNS
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.69
    Latest signed off version: v1.30 (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, OMIM:602099

    Green SPG11 in DDG2P


    Version 2.50
    Latest signed off version: v2.2 (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 1.417

    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 3.1378
    Latest signed off version: v3.2 (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 1.125
    Latest signed off version: v1.121 (5 Aug 2021)

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

    Green SPG11 in Hereditary neuropathy NOT PMP22 copy number


    Version 1.64
    Latest signed off version: v1.36 (5 Aug 2021)

    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 1.84

    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