ABCB7

ATP binding cassette subfamily B member 7
OMIM: 300135, Gene2Phenotype

13 panels

Panel Reviews Mode of inheritance Details
13 panels

Green ABCB7 in Bone Marrow Failure


Level 2: Haematological disorders
Version 1.114

Component of the following Super Panels:

  • Immunological disorders_SuperPanel
  • review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Anemia, sideroblastic, with ataxia, MIM# 301310

    Green ABCB7 in Mendeliome


    Version 1.2374

    review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Anaemia, sideroblastic, with ataxia, MIM# 301310

    Green ABCB7 in Mitochondrial disease


    Level 2: Metabolic disorders
    Version 0.970

    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
    • Australian Genomics Health Alliance Mitochondrial Flagship
    Phenotypes
    • Anaemia, sideroblastic, with ataxia, MIM# 301310

    Red ABCB7 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 Red
    • Victorian Clinical Genetics Services
    Phenotypes
    • Anaemia, sideroblastic, with ataxia, MIM# 301310

    Green ABCB7 in Ataxia - paediatric


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.33

    Component of the following Super Panels:

  • Ataxia_Superpanel
  • 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
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Anemia, sideroblastic, with ataxia
    • Sideroblastic Anemia and Ataxia
    • Anemia, sideroblast with ataxia, 300135

    Green ABCB7 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
    • Anemia, sideroblastic, with ataxia, 301310 (3)

    Red ABCB7 in Additional findings_Paediatric


    Level 2: Screening
    Version 0.278

    review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert Review Red
    • BabySeq Category C gene
    Phenotypes
    • Sideroblastic anaemia and ataxia

    Green ABCB7 in Red cell disorders


    Level 2: Haematological disorders
    Version 1.29

    review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert Review Green
    • Yorkshire and North East GLH
    • NHS GMS
    • Wessex and West Midlands GLH
    • North West GLH
    • London South GLH
    Phenotypes
    • Anaemia, sideroblastic, with ataxia, MIM# 301310

    Green ABCB7 in Metal Metabolism Disorders


    Level 2: Metabolic disorders
    Version 0.47

    Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • Progressive Neurological Conditions
  • review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • NHS Genomic Medicine Service
    • Expert Review Green
    • Genomics England PanelApp
    Phenotypes
    • 301310 Anemia, sideroblastic, with ataxia

    Red ABCB7 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
    • Anaemia, sideroblastic, with ataxia, MIM# 301310

    Green ABCB7 in IBMDx study


    Version 0.35

    review Unknown
    Sources
    • Expert Review Green
    • IBMDx Study
    Phenotypes
    • Anemia, sideroblastic, with ataxia, MIM# 301310

    Green ABCB7 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
    • Anemia, sideroblastic, with ataxia, MIM# 301310

    Red ABCB7 in BabyScreen+ newborn screening


    Level 2: Screening
    Version 1.116

    review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • BabySeq Category C gene
    • Expert Review Red
    Phenotypes
    • Sideroblastic anaemia and ataxia