SPART

spartin
OMIM: 607111, Gene2Phenotype

10 panels

Panel Reviews Mode of inheritance Details
10 panels

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


Version 1.241
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
    • Troyer syndrome, OMIM:275900
    Tags
    • Q2_21_rating

    Green SPART in Inherited white matter disorders

    Level 3: White matter disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.159

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Troyer syndrome, OMIM:275900

    Green SPART in Hereditary spastic paraplegia

    Level 3: Motor Disorders of the CNS
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.295

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    • UKGTN
    Phenotypes
    • Troyer syndrome, OMIM:275900
    • Spastic paraplegia 20

    Green SPART in Hereditary spastic paraplegia - childhood onset


    Version 2.145
    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
    • Expert Review Green
    • Expert list
    • UKGTN
    Phenotypes
    • Troyer syndrome, OMIM:275900
    • Spastic paraplegia 20

    Amber SPART in Hereditary spastic paraplegia - adult onset


    Version 1.102
    Latest signed off version: v1.27 (5 Aug 2021)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Yorkshire and North East GLH
    • NHS GMS
    • London North GLH
    Phenotypes
    • Troyer syndrome, OMIM:275900
    • Spastic paraplegia 20

    Red SPART in Neurodegenerative disorders - adult onset


    Version 2.275
    Latest signed off version: v2.178 (5 Aug 2021)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Wessex and West Midlands GLH
    • Yorkshire and North East GLH
    • NHS GMS
    • London North GLH
    Phenotypes
    • Troyer syndrome, OMIM:275900

    Red SPART in Hereditary neuropathy

    Level 3: Motor and Sensory Disorders of the PNS
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.454

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • South West GLH
    • Emory Genetics Laboratory
    Phenotypes
    • Hereditary Neuropathies

    Green SPART in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.1677
    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
    • Expert Review Green
    • BRIDGE study SPEED NEURO Tier1 Gene
    Phenotypes
    • Troyer syndrome, OMIM:275900

    Red SPART in Hereditary neuropathy NOT PMP22 copy number


    Version 1.103
    Latest signed off version: v1.36 (5 Aug 2021)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • South West GLH
    • Emory Genetics Laboratory
    • NHS GMS
    • South West GLH
    Phenotypes
    • Hereditary Neuropathies

    Green SPART in Severe Paediatric Disorders


    Version 1.127

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Troyer syndrome, 275900