ABCD1

ATP binding cassette subfamily D member 1
OMIM: 300371, Gene2Phenotype

17 panels

Panel Reviews Mode of inheritance Details
17 panels

Red ABCD1 in Cerebral Palsy


Level 2: Neurology and neurodevelopmental disorders
Version 1.389

review X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Adrenoleukodystrophy, MIM#300100

Green ABCD1 in Mendeliome


Version 1.2374

review X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Expert list
  • Victorian Clinical Genetics Services
Phenotypes
  • Adrenoleukodystrophy MIM#300100

Green ABCD1 in Peroxisomal Disorders


Level 2: Metabolic disorders
Version 0.54

Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • Progressive Neurological Conditions
  • review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • adrenoleukodystrophy (MONDO:0018544)

    Green ABCD1 in Regression


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.573

    review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • adrenoleukodystrophy (MONDO:0018544)

    Green ABCD1 in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.83

    review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert Review Green
    • Genetic Health Queensland
    Phenotypes
    • Adrenoleukodystrophy, MIM# 300100

    Green ABCD1 in Ataxia - adult onset


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.20

    Component of the following Super Panels:

  • Ataxia_Superpanel
  • Neurodegenerative disease - adult onset
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions
  • review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
    Sources
    • Expert Review Green
    • Expert list
    • Royal Melbourne Hospital
    Phenotypes
    • Adrenoleukodystrophy

    Green ABCD1 in Leukodystrophy - paediatric


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.318

    Component of the following Super Panels:

  • Leukodystrophy_Superpanel
  • Progressive Neurological Conditions
  • review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Adrenoleukodystrophy, MIM# 300100

    Green ABCD1 in Leukodystrophy - adult onset


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.143

    Component of the following Super Panels:

  • Leukodystrophy_Superpanel
  • Progressive Neurological Conditions
  • review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Royal Melbourne Hospital
    • Expert Review Green
    Phenotypes
    • Adrenoleukodystrophy, Adrenomyeloneuropathy, adult, 300100

    Green ABCD1 in Hereditary Spastic Paraplegia - adult onset


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.11

    Component of the following Super Panels:

  • Hereditary Spastic Paraplegia Superpanel
  • Neurodegenerative disease - adult onset
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions
  • review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
    Sources
    • Expert Review Green
    • Expert list
    • Royal Melbourne Hospital
    Phenotypes
    • spastic paraparesis
    • Hereditary spastic paraplegia
    • Adrenoleukodystrophy, 300100
    • VLCFA accumulation
    • adrenal failure

    Green ABCD1 in Hereditary Spastic Paraplegia - paediatric


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.87

    Component of the following Super Panels:

  • Hereditary Spastic Paraplegia Superpanel
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions
  • review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Adrenoleukodystrophy, MIM# 300100

    Green ABCD1 in Hereditary Neuropathy - complex


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.19

    Component of the following Super Panels:

  • Hereditary Neuropathy_CMT_IsolatedAndComplex
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions
  • review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
    Sources
    • Expert Review Green
    • Royal Melbourne Hospital
    Phenotypes
    • Adrenomyeloneuropathy, adult (MIM#300100)
    • Adrenomyeloneuropathy, spastic paraparesis, adrenal insufficiency, axonal sensory-motor neuropathy, sphincter disturbance

    Green ABCD1 in Mackenzie's Mission_Reproductive Carrier Screening


    Level 2: Screening
    Version 0.109

    review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Adrenoleukodystrophy, 300100 (3)

    Green ABCD1 in Additional findings_Paediatric


    Level 2: Screening
    Version 0.278

    review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • BabySeq Category A gene
    • Expert Review Green
    Phenotypes
    • Adrenoleukodystrophy

    Red ABCD1 in Fetal anomalies


    Version 1.314

    review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert Review Red
    • Genomics England PanelApp
    Phenotypes
    • Adrenoleukodystrophy, MIM# 300100

    Green ABCD1 in Prepair 1000+


    Level 2: Screening
    Version 1.1586

    review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Adrenoleukodystrophy, 300100 (3)

    Green ABCD1 in BabyScreen+ newborn screening


    Level 2: Screening
    Version 1.116

    review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert Review Green
    • BabySeq Category A gene
    Phenotypes
    • Adrenoleukodystrophy, MIM# 300100
    Tags
    • treatable
    • metabolic

    Green ABCD1 in Prepair 500+


    Level 2: Screening
    Version 1.5

    review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Adrenoleukodystrophy, 300100 (3)