BOLA3

bolA family member 3
OMIM: 613183, Gene2Phenotype

13 panels

Panel Reviews Mode of inheritance Details
13 panels

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


Version 1.16
Signed off v.1.12 on 2 Mar 2020

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 1.3
    Signed off v.1.2 on 17 Feb 2020

    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 1.82

    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 1.422

    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 2.22
    Signed off v.2.3 on 17 Feb 2020

    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 1.16
    Signed off v.1.13 on 17 Feb 2020

    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 1.97
    Signed off v.1.92 on 21 Aug 2020

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

    Amber BOLA3 in DDG2P


    Version 2.9
    Signed off v.2.2 on 13 Feb 2020

    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 2.154
    Signed off v.2.2 on 13 Feb 2020

    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 3.363
    Signed off v.3.2 on 13 Feb 2020

    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 2.8
    Signed off v.2.4 on 17 Feb 2020

    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 1.57
    Signed off v.1.48 on 20 Aug 2020

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

    Green BOLA3 in Severe Paediatric Disorders


    Version 1.11

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia, 614299