ATL1

atlastin GTPase 1
OMIM: 606439, Gene2Phenotype

11 panels

Panel Reviews Mode of inheritance Details
11 panels

Red ATL1 in Familial dysautonomia


Version 1.15

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

Green ATL1 in Pain syndromes

Level 3: Channelopathies
Level 2: Neurology and neurodevelopmental disorders
Version 1.10

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 1.17
Latest signed off version: v1.2 (27 Feb 2020)

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 1.259

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 Hereditary spastic paraplegia - childhood onset


Version 2.84
Latest signed off version: v2.18 (8 Oct 2020)

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 Hereditary spastic paraplegia - adult onset


Version 1.73
Latest signed off version: v1.27 (5 Aug 2021)

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 Neurodegenerative disorders - adult onset


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

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 Hereditary neuropathy

Level 3: Motor and Sensory Disorders of the PNS
Level 2: Neurology and neurodevelopmental disorders
Version 1.417

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

Green ATL1 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 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green
    • BRIDGE study SPEED NEURO Tier1 Gene
    Phenotypes
    • Spastic paraplegia 3A, autosomal dominant, 182600
    • Hereditary spastic paraplegia
    • Intellectual disability
    Tags
    • for-review

    Green ATL1 in Hereditary neuropathy NOT PMP22 copy number


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

    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 1.84

    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