BOLA3

bolA family member 3
OMIM: 613183, Gene2Phenotype

12 panels

Panel Reviews Mode of inheritance Details
12 panels

Red BOLA3 in White matter disorders and cerebral calcification - narrow panel


Version 1.11

Component of the following Super Panels:

  • White matter disorders - childhood onset
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red

    Green BOLA3 in Pyruvate dehydrogenase (PDH) deficiency


    Version 1.1
    Signed off v.1.0 on 31 Jul 2019

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 2 WITH HYPERGLYCINEMIA, 614299

    Red BOLA3 in Inherited white matter disorders

    Level 3: White matter disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.71

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Literature

    Green BOLA3 in Undiagnosed metabolic disorders

    Level 3: Specific metabolic abnormalities
    Level 2: Metabolic disorders
    Version 1.413

    review BIALLELIC, autosomal or pseudoautosomal
    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
    • Multiple mitochondrial dysfunctions syndrome 2, 614299
    • Hyperglycinaemia, non-ketotic (Baker (2014) Brain 137,366)
    • Multiple Mitochondrial Dysfunctions Syndrome

    Green BOLA3 in Inborn errors of metabolism


    Version 2.2

    Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • London North GLH
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • Hyperglycinaemia, non-ketotic (Baker (2014) Brain 137,366)
    • Defective Fe-S/lipoic acid biosynthesis (Mitochondrial respiratory chain disorders (caused by nuclear variants only))
    • Multiple mitochondrial dysfunctions syndrome 2, 614299
    • Multiple Mitochondrial Dysfunctions Syndrome
    • Disorders of iron homeostasis

    Green BOLA3 in Possible mitochondrial disorder - nuclear genes


    Version 1.12

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 2 WITH HYPERGLYCINEMIA, 614299

    Amber BOLA3 in Fetal anomalies


    Version 1.0

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • PAGE DD-Gene2Phenotype
    Phenotypes
    • MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 2

    Amber BOLA3 in DDG2P


    Version 2.0

    Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Amber
    Phenotypes
    • MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 2 614299

    Green BOLA3 in Genetic epilepsy syndromes

    Level 3: Inherited Epilepsy Syndromes
    Level 2: Neurology and neurodevelopmental disorders
    Version 2.0

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Wessex and West Midlands GLH
    • NHS GMS
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia 614299

    Green BOLA3 in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.0

    Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    Phenotypes
    • MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 2

    Green BOLA3 in Mitochondrial disorders

    Level 3: Mitochondrial
    Level 2: Metabolic disorders
    Version 2.3

    Component of the following Super Panels:

  • White matter disorders - childhood onset
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green
    • Illumina TruGenome Clinical Sequencing Services
    • Radboud University Medical Center, Nijmegen
    • Expert list
    • Expert
    Phenotypes
    • Disorders of iron homeostasis
    • Multiple mitochondrial dysfunctions syndrome 2, 614299
    • Hyperglycinaemia, non-ketotic (Baker (2014) Brain 137,366)
    • Multiple Mitochondrial Dysfunctions Syndrome

    Red BOLA3 in Childhood onset dystonia or chorea or related movement disorder


    Version 1.0

    review Not set
    Sources
    • Expert Review Red
    • London North GLH