GAN

gigaxonin
OMIM: 605379, ClinGen, DECIPHER

10 panels

Panel Reviews Mode of inheritance Details
10 panels

Green GAN in Mendeliome


Version 2.588

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Giant axonal neuropathy-1, MIM# 256850

Red GAN in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 2.145

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Genetic Health Queensland
Phenotypes
  • Giant axonal neuropathy-1, MIM# 256850

Green GAN in Ataxia


Level 2: Neurology and neurodevelopmental disorders
Version 2.157

Component of the following Super Panels:

  • Movement Disorders Superpanel
  • Neurodegenerative disease - adult onset
  • Progressive Neurological Conditions
  • 1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • giant axonal neuropathy 1, MONDO:0009749

    Red GAN in Leukodystrophy


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.10

    Component of the following Super Panels:

  • Progressive Neurological Conditions
  • 1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Royal Melbourne Hospital
    • Expert Review Red
    • Expert Review Red
    Phenotypes
    • Giant axonal neuropathy-1, MIM#256850

    Green GAN in Hereditary Spastic Paraplegia


    Level 2: Neurology and neurodevelopmental disorders
    Version 2.5

    Component of the following Super Panels:

  • Neurodegenerative disease - adult onset
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions
  • 1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Royal Melbourne Hospital
    Phenotypes
    • Giant axonal neuropathy-1, MIM# 256850

    Green GAN in Hereditary Neuropathy


    Level 2: Neurology and neurodevelopmental disorders
    Version 2.101

    Component of the following Super Panels:

  • Neuromuscular Superpanel
  • Progressive Neurological Conditions
  • 1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Royal Melbourne Hospital
    Phenotypes
    • Giant axonal neuropathy-1, MIM# 256850

    Green GAN in Mackenzie's Mission_Reproductive Carrier Screening


    Level 2: Screening
    Version 1.0

    0 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Giant axonal neuropathy-1, 256850 (3)

    Green GAN in Additional findings_Paediatric


    Level 2: Screening
    Version 1.1

    0 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • BabySeq Category A gene
    • Expert Review Green
    Phenotypes
    • Giant axonal neuropathy

    Green GAN in Prepair 1000+


    Level 2: Screening
    Version 3.0

    1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Giant axonal neuropathy-1, 256850 (3)

    Red GAN in Genomic newborn screening: BabyScreen+


    Level 2: Screening
    Version 2.7

    2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • BabySeq Category A gene
    Phenotypes
    • Giant axonal neuropathy-1, MIM#256850