SPART

spartin
OMIM: 607111, Gene2Phenotype

10 panels

Panel Reviews Mode of inheritance Details
10 panels
Green SPART in White matter disorders and cerebral calcification - narrow panel


Version 3.31
Latest signed off version: v3.0 (22 Mar 2023)

Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    Phenotypes
    • Troyer syndrome, OMIM:275900
    Green SPART in Inherited white matter disorders

    Level 3: White matter disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.179

    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 1.308

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    • UKGTN
    Phenotypes
    • Troyer syndrome, OMIM:275900
    • Spastic paraplegia 20
    Green SPART in Childhood onset hereditary spastic paraplegia


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

    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 Adult onset hereditary spastic paraplegia


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

    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 Adult onset neurodegenerative disorder


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

    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 1.476

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


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

    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 1.182

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