ATL3:Ensemblv90

atlastin GTPase 3
OMIM: 609369, ClinGen, DECIPHER

7 panels

Panel Reviews Mode of inheritance Details
7 panels

Green ATL3 in Mendeliome


Version 1.3802

1 review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Neuropathy, hereditary sensory, type IF, MIM# 615632

Green ATL3 in Hereditary Neuropathy_CMT - isolated


Level 2: Neurology and neurodevelopmental disorders
Version 1.68

Component of the following Super Panels:

  • Hereditary Neuropathy_CMT_IsolatedAndComplex
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions
  • 2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Royal Melbourne Hospital
    Phenotypes
    • Hereditary sensory neuropathy type IF
    • HSAN/SFN

    Green ATL3 in Pain syndromes


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.36

    Component of the following Super Panels:

  • Progressive Neurological Conditions
  • 0 reviews MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    Phenotypes
    • Neuropathy, hereditary sensory, type IF, 615632
    • HSN1F

    Red ATL3 in Autonomic neuropathy


    Level 2: Autonomic Neuropathy
    Version 0.51

    1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Literature
    Phenotypes
    • # 615632 NEUROPATHY, HEREDITARY SENSORY, TYPE IF
    • HSN1F

    Green ATL3 in Hereditary Neuropathy_CMT - isolated


    Level 2: Neurology and neurodevelopmental disorders
    Version 2.0

    2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Royal Melbourne Hospital
    • Expert Review Green
    Phenotypes
    • Hereditary sensory neuropathy type IF
    • HSAN/SFN

    Green ATL3 in Pain syndromes


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.0

    0 reviews MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Genomics England PanelApp
    • Expert Review Green
    Phenotypes
    • Neuropathy, hereditary sensory, type IF, 615632
    • HSN1F

    Red ATL3 in Autonomic neuropathy


    Level 2: Autonomic Neuropathy
    Version 1.0

    1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Literature
    • Expert Review Red
    Phenotypes
    • # 615632 NEUROPATHY, HEREDITARY SENSORY, TYPE IF
    • HSN1F