ABCB7

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

16 panels

Panel Reviews Mode of inheritance Details
16 panels
Green ABCB7 in Ataxia and cerebellar anomalies - narrow panel


Version 4.59
Latest signed off version: v4.0 (22 Mar 2023)

Component of the following Super Panels:

  • Hereditary ataxia and cerebellar anomalies - childhood onset
  • review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • Anemia, sideroblastic, with ataxia, OMIM:301310
    Green ABCB7 in Hereditary ataxia

    Level 3: Motor Disorders of the CNS
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.332

    review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert Review Green
    • UKGTN
    • Illumina TruGenome Clinical Sequencing Services
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Anemia, sideroblastic, with ataxia, OMIM:301310
    Green ABCB7 in Cytopenias and congenital anaemias

    Level 3: Anaemias and red cell disorders
    Level 2: Haematological disorders
    Version 1.118

    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
    • Illumina TruGenome Clinical Sequencing Services
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Anemia, sideroblastic, with ataxia, OMIM:301310
    Tags
    • missense
    Green ABCB7 in Rare anaemia


    Version 3.8
    Latest signed off version: v3.0 (22 Mar 2023)

    review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
    Sources
    • North West GLH
    • Yorkshire and North East GLH
    • London South GLH
    • NHS GMS
    • Expert Review Green
    • Wessex and West Midlands GLH
    Phenotypes
    • Anemia, sideroblastic, with ataxia
    • Sideroblastic Anemia and Ataxia
    • 301310 Sideroblastic Anemia and Ataxia
    • 301310 Sideroblastic anaemia
    • Anemia, sideroblastic, with ataxia, 301310
    Green ABCB7 in Iron metabolism disorders - NOT common HFE mutations


    Version 2.6
    Latest signed off version: v2.0 (22 Mar 2023)

    review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert Review Green
    • NHS GMS
    • Wessex and West Midlands GLH
    Phenotypes
    • 301310 Anemia, sideroblastic, with ataxia
    Red ABCB7 in Adult onset neurodegenerative disorder


    Version 4.47
    Latest signed off version: v4.34 (31 Jul 2023)

    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 Red
    • Wessex and West Midlands GLH
    • Yorkshire and North East GLH
    • NHS GMS
    • London North GLH
    Phenotypes
    • Anemia, sideroblastic, with ataxia,
    • Sideroblastic Anemia and Ataxia
    Green ABCB7 in Undiagnosed metabolic disorders

    Level 3: Specific metabolic abnormalities
    Level 2: Metabolic disorders
    Version 1.617

    review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Defective Fe-S/lipoic acid biosynthesis (Mitochondrial respiratory chain disorders (caused by nuclear variants only))
    • Disorders of iron homeostasis
    • Anemia, sideroblastic, with ataxia
    • congenital cerebellar hypoplasia/atrophy (PMID: 26242992).
    Green ABCB7 in Likely inborn error of metabolism - targeted testing not possible


    Version 4.137
    Latest signed off version: v4.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • Unexplained death in infancy and sudden unexplained death in childhood
  • review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • London North GLH
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • Anemia, sideroblastic, with ataxia OMIM:301310
    • X-linked sideroblastic anemia with ataxia MONDO:0010524
    Green ABCB7 in Possible mitochondrial disorder - nuclear genes


    Version 3.105
    Latest signed off version: v3.0 (22 Mar 2023)

    review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • Anemia, sideroblastic, with ataxia, 301310
    Red ABCB7 in Fetal anomalies


    Version 3.154
    Latest signed off version: v3.0 (22 Mar 2023)

    review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert Review Red
    • PAGE DD-Gene2Phenotype
    Phenotypes
    • ANEMIA, SIDEROBLASTIC, WITH ATAXIA
    Green ABCB7 in DDG2P


    Version 3.87
    Latest signed off version: v3.1 (22 Mar 2023)

    Component of the following Super Panels:

  • Paediatric disorders
  • review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • ANEMIA, SIDEROBLASTIC, WITH ATAXIA 301310
    Red ABCB7 in Intellectual disability - microarray and sequencing

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 5.524
    Latest signed off version: v5.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert Review Red
    Phenotypes
    • ANEMIA, SIDEROBLASTIC, WITH ATAXIA
    Green ABCB7 in Mitochondrial disorders

    Level 3: Mitochondrial
    Level 2: Metabolic disorders
    Version 4.168
    Latest signed off version: v4.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green
    • Expert list
    • Expert
    Phenotypes
    • Disorders of iron homeostasis
    • Anemia, sideroblastic, with ataxia
    • congenital cerebellar hypoplasia/atrophy (PMID: 26242992).
    Amber ABCB7 in Hereditary ataxia with onset in adulthood


    Version 4.31
    Latest signed off version: v4.0 (22 Mar 2023)

    review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert Review Amber
    • NHS GMS
    • Wessex and West Midlands GLH
    • Hereditary ataxia v1.148
    Phenotypes
    • Anemia, sideroblastic, with ataxia OMIM:301310
    • X-linked sideroblastic anemia with ataxia MONDO:0010524
    Amber ABCB7 in Childhood onset dystonia, chorea or related movement disorder


    Version 3.75
    Latest signed off version: v3.0 (22 Mar 2023)

    review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • London North GLH
    • Expert Review Amber
    Phenotypes
    • Anemia, sideroblastic, with ataxia, 301310
    Green ABCB7 in Severe Paediatric Disorders


    Version 1.184

    review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Anemia, sideroblastic, with ataxia, 301310