ATL1

atlastin GTPase 1
OMIM: 606439, Gene2Phenotype

12 panels

Panel Reviews Mode of inheritance Details
12 panels
Red ATL1 in Familial dysautonomia


Version 1.17

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
Phenotypes
  • Neuropathy, hereditary sensory, type ID 613708
Green ATL1 in Pain syndromes

Level 3: Channelopathies
Level 2: Neurology and neurodevelopmental disorders
Version 1.12

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literaure
  • Review
Phenotypes
  • Neuropathy, hereditary sensory, type ID, 613708
  • HSN1D
  • Hereditary spastic paraplegia, 182600
  • Hereditary sensory neuropathy
Red ATL1 in Paroxysmal central nervous system disorders


Version 3.10
Latest signed off version: v3.0 (22 Mar 2023)

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • NHS GMS
  • London North GLH
  • Wessex and West Midlands GLH
Phenotypes
  • Spastic paraplegia 3A, autosomal dominant, 182600
  • Neuropathy, hereditary sensory, type ID, 613708
  • HSN1D
  • Hereditary sensory neuropathy
Green ATL1 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
  • Expert list
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Spastic paraplegia 3A, autosomal dominant,
  • Spastic Paraplegia, Dominant
  • Spastic paraplegia 3A, autosomal dominant
Green ATL1 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 3A, autosomal dominant,182600
  • Spastic Paraplegia, Dominant
Green ATL1 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 3A, 182600 autosomal dominant
  • Spastic Paraplegia, Dominant
  • Neuropathy, hereditary sensory, type ID, 613708
Red ATL1 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
  • Expert Review Red
  • Wessex and West Midlands GLH
  • Yorkshire and North East GLH
  • NHS GMS
  • London North GLH
Phenotypes
  • Spastic paraplegia 3A, autosomal dominant,
  • Spastic Paraplegia, Dominant
  • Spastic paraplegia 3A, autosomal dominant
Green ATL1 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
    • ATL1-associated hereditary spastic paraplegia
    Green ATL1 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
    • South West GLH
    • NHS GMS
    • London North GLH
    • Expert Review Green
    • Emory Genetics Laboratory
    • Radboud University Medical Center, Nijmegen
    • UKGTN
    • Expert list
    Phenotypes
    • Neuropathy, hereditary sensory, type ID, 613708
    Red ATL1 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, NOT imprinted
    Sources
    • Expert Review Red
    • Victorian Clinical Genetics Services
    • BRIDGE study SPEED NEURO Tier1 Gene
    Phenotypes
    • Spastic paraplegia 3A, autosomal dominant, 182600
    • Hereditary spastic paraplegia
    • Intellectual disability
    Green ATL1 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
    • Radboud University Medical Center, Nijmegen
    • South West GLH
    • Expert Review Green
    • UKGTN
    • Emory Genetics Laboratory
    • Expert list
    • London North GLH
    • NHS GMS
    • South West GLH
    • NHS GMS
    • London North GLH
    Phenotypes
    • Neuropathy, hereditary sensory, type ID, 613708
    Green ATL1 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
    • Neuropathy, hereditary sensory, type ID, 613708
    • Spastic paraplegia 3A, autosomal dominant, 182600