PEX10

peroxisomal biogenesis factor 10
OMIM: 602859, Gene2Phenotype

21 panels

Panel Reviews Mode of inheritance Details
21 panels
Green PEX10 in Peroxisomal disorders

Level 3: Peroxisomal disorders
Level 2: Metabolic disorders
Version 1.19

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • Expert list
  • UKGTN
  • Emory Genetics Laboratory
Phenotypes
  • Peroxisome biogenesis disorder 6A (Zellweger) 614870
  • Peroxisome biogenesis disorder 6B 614871
Green PEX10 in Neonatal cholestasis

Level 3: Liver disease
Level 2: Gastroenterological disorders
Version 1.26

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Emory Genetics Laboratory
Phenotypes
  • Peroxisome biogenesis disorder 6A (Zellweger) 614870
  • Peroxisome biogenesis disorder 6B 614871
Green PEX10 in Fetal hydrops

Level 3: Fetal disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.64

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Other
Phenotypes
  • Zellweger, peroxisome biogenesis disorder 6A
  • Peroxisome biogenesis disorder 6A (Zellweger), 614870
  • Peroxisome biogenesis disorder 6B, 614871
Green PEX10 in White matter disorders and cerebral calcification - narrow panel


Version 3.35
Latest signed off version: v3.0 (22 Mar 2023)

Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    Phenotypes
    • Peroxisome-Associated Disorders & Zellweger Syndrome
    • ZELLWEGER SYNDROME
    • PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP 7
    Green PEX10 in Bilateral congenital or childhood onset cataracts

    Level 3: Anterior segment abnormalities
    Level 2: Ophthalmological disorders
    Version 4.12
    Latest signed off version: v4.0 (22 Mar 2023)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Peroxisome biogenesis disorder
    Green PEX10 in Adult onset leukodystrophy


    Version 3.24
    Latest signed off version: v3.0 (22 Mar 2023)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    • Yorkshire and North East GLH
    Phenotypes
    • Peroxisome biogenesis disorder 6B, 614871
    Red PEX10 in Ductal plate malformation


    Version 1.29

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Radboud University Medical Center, Nijmegen, Expert list
    Phenotypes
    • Peroxisome biogenesis disorder 6A (Zellweger) (614870)
    • Peroxisome biogenesis disorder 6B (614871)
    Green PEX10 in Malformations of cortical development

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 4.26
    Latest signed off version: v4.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Cerebral malformation
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Literature
    • Expert Review Green
    Phenotypes
    • Disorders of peroxisome biogenesis
    • Peroxisome biogenesis disorder 6A (Zellweger), 614870
    • Peroxisome biogenesis disorder 6B, 614871
    Green PEX10 in Inherited white matter disorders

    Level 3: White matter disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.180

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Peroxisome-Associated Disorders & Zellweger Syndrome
    • PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP 7
    • ZELLWEGER SYNDROME
    Green PEX10 in Arthrogryposis

    Level 3: Neuromuscular disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 5.22
    Latest signed off version: v5.0 (22 Mar 2023)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Illumina TruGenome Clinical Sequencing Services
    • UKGTN
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Peroxisome biogenesis disorder 6A (Zellweger) 614870
    Green PEX10 in Undiagnosed metabolic disorders

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

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Disorders of peroxisome biogenesis
    • Peroxisome biogenesis disorder 6A (Zellweger) 614870
    • Peroxisome biogenesis disorder 6B 614871
    Green PEX10 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 BIALLELIC, autosomal or pseudoautosomal
    Sources
    • London North GLH
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • Disorders of peroxisome biogenesis
    • Peroxisome biogenesis disorder 6A (Zellweger) 614870
    • Peroxisome biogenesis disorder 6B 614871
    Green PEX10 in Fetal anomalies


    Version 3.155
    Latest signed off version: v3.0 (22 Mar 2023)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • PAGE DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • ADRENOLEUKODYSTROPHY NEONATAL
    • ZELLWEGER SYNDROME
    • PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP 7
    Green PEX10 in DDG2P


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

    Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • ZELLWEGER SYNDROME 214100
    • ADRENOLEUKODYSTROPHY NEONATAL 202370
    • PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP 7 602859
    Green PEX10 in Hereditary neuropathy

    Level 3: Motor and Sensory Disorders of the PNS
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.477

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    • London North GLH
    Phenotypes
    • Failure to thrive, facial dismorphism, agenesis of the corpus callosum, death in first year of life, axonal motor neuropathy, progressive ataxia and sensory-motor axonal neuropathy in adulthood described
    • Peroxisome biogenesis disorder 6A (Zellweger), 614870
    • Peroxisome biogenesis disorder 6B, 614871
    Amber PEX10 in Early onset or syndromic epilepsy

    Level 3: Inherited Epilepsy Syndromes
    Level 2: Neurology and neurodevelopmental disorders
    Version 4.193
    Latest signed off version: v4.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Unexplained death in infancy and sudden unexplained death in childhood
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Wessex and West Midlands GLH
    • NHS GMS
    • Literature
    Phenotypes
    • Peroxisome biogenesis disorder 6A (Zellweger) 614870
    Green PEX10 in Intellectual disability - microarray and sequencing

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 5.532
    Latest signed off version: v5.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Peroxisome biogenesis disorder 6A (Zellweger), 614870Peroxisome biogenesis disorder 6B, 614871
    • ADRENOLEUKODYSTROPHY NEONATAL (NALD)
    Red PEX10 in Structural eye disease


    Version 3.77
    Latest signed off version: v3.0 (22 Mar 2023)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    Phenotypes
    • Peroxisome biogenesis disorder 6B, 614871
    Amber PEX10 in Hereditary neuropathy or pain disorder


    Version 3.94
    Latest signed off version: v3.24 (15 May 2023)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • London North GLH
    • NHS GMS
    • NHS GMS
    • London North GLH
    Phenotypes
    • Peroxisome biogenesis disorder 6A (Zellweger), 614870
    • Failure to thrive, facial dismorphism, agenesis of the corpus callosum, death in first year of life, axonal motor neuropathy, progressive ataxia and sensory-motor axonal neuropathy in adulthood described
    • Peroxisome biogenesis disorder 6B, 614871
    Red PEX10 in Childhood onset dystonia, chorea or related movement disorder


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

    review Not set
    Sources
    • Expert Review Red
    • London North GLH
    Green PEX10 in Severe Paediatric Disorders


    Version 1.184

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Peroxisome biogenesis disorder 6A (Zellweger), 614870
    • Peroxisome biogenesis disorder 6B, 614871