PEX6

peroxisomal biogenesis factor 6
OMIM: 601498, Gene2Phenotype

23 panels

Panel Reviews Mode of inheritance Details
23 panels

Green PEX6 in Peroxisomal disorders

Level 3: Peroxisomal disorders
Level 2: Metabolic disorders
Version 1.16

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • Expert list
  • UKGTN
  • Emory Genetics Laboratory
Phenotypes
  • Peroxisome biogenesis disorder 4A (Zellweger), OMIM:614862
  • Peroxisome biogenesis disorder 4B, OMIM:614863

Green PEX6 in Neonatal cholestasis

Level 3: Liver disease
Level 2: Gastroenterological disorders
Version 1.20

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Emory Genetics Laboratory
Phenotypes
  • Peroxisome biogenesis disorder 4A (Zellweger) 614862

Green PEX6 in Fetal hydrops

Level 3: Fetal disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.39

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Other
Phenotypes
  • Zellweger, peroxisome biogenesis disorder 4A, 4B
  • Peroxisome biogenesis disorder 4A (Zellweger), 614862
  • Peroxisome biogenesis disorder 4B, 614863

Green PEX6 in White matter disorders and cerebral calcification - narrow panel


Version 1.208
Latest signed off version: v1.12 (2 Mar 2020)

Component of the following Super Panels:

  • White matter disorders - childhood onset
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    Phenotypes
    • Peroxisome biogenesis disorder 4B 614863
    • Peroxisome biogenesis disorder 4A (Zellweger) 614862

    Green PEX6 in Cholestasis


    Version 1.88
    Latest signed off version: v1.21 (20 Aug 2020)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Other
    • NHS GMS
    Phenotypes
    • Peroxisome biogenesis disorder 4A (Zellweger) 614862

    Green PEX6 in Cataracts

    Level 3: Anterior segment abnormalities
    Level 2: Ophthalmological disorders
    Version 2.85
    Latest signed off version: v2.76 (5 Aug 2021)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • UKGTN
    Phenotypes
    • Peroxisome biogenesis disorder 4A (Zellweger)
    • Confirmed DD gene for ZELLWEGER SYNDROME
    • Peroxisome biogenesis disorder

    Green PEX6 in White matter disorders - adult onset


    Version 1.31
    Latest signed off version: v1.25 (5 Aug 2021)

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    • Yorkshire and North East GLH
    Phenotypes
    • Peroxisome biogenesis disorder 4B, 614863
    • Peroxisome biogenesis disorder 4A (Zellweger), 614862

    Red PEX6 in Ductal plate malformation


    Version 1.18

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Radboud University Medical Center, Nijmegen, Expert list
    Phenotypes
    • Peroxisome biogenesis disorder 4A (Zellweger) (614862)
    • Peroxisome biogenesis disorder 4B (614863)

    Green PEX6 in Malformations of cortical development

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 2.94
    Latest signed off version: v2.2 (25 Feb 2020)

    Component of the following Super Panels:

  • Cerebral malformations
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Literature
    • Expert Review Green
    Phenotypes
    • Disorders of peroxisome biogenesis
    • Peroxisome biogenesis disorder 4A (Zellweger), 614862
    • Peroxisome biogenesis disorder 4B, 614863

    Green PEX6 in Inherited white matter disorders

    Level 3: White matter disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.141

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Illumina TruGenome Clinical Sequencing Services
    • Radboud University Medical Center, Nijmegen
    • Emory Genetics Laboratory
    • UKGTN
    • Expert list
    Phenotypes
    • Peroxisome biogenesis disorder 4A (Zellweger) 614862
    • Peroxisome biogenesis disorder 4B 614863

    Green PEX6 in Arthrogryposis

    Level 3: Neuromuscular disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.130
    Latest signed off version: v3.2 (13 Feb 2020)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Radboud University Medical Center, Nijmegen
    • Emory Genetics Laboratory
    • Illumina TruGenome Clinical Sequencing Services
    Phenotypes
    • Peroxisome biogenesis disorder 4A (Zellweger) 614862

    Green PEX6 in Undiagnosed metabolic disorders

    Level 3: Specific metabolic abnormalities
    Level 2: Metabolic disorders
    Version 1.486

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Disorders of peroxisome biogenesis
    • Peroxisome biogenesis disorder 4A (Zellweger) 614862
    • Peroxisome biogenesis disorder 4B 614863

    Green PEX6 in Inborn errors of metabolism


    Version 2.188
    Latest signed off version: v2.3 (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
    • Peroxisome biogenesis disorder 4A (Zellweger) OMIM:614862
    • peroxisome biogenesis disorder 4A (Zellweger) MONDO:0013930
    • Peroxisome biogenesis disorder 4B OMIM:614863
    • peroxisome biogenesis disorder 4B MONDO:0013931

    Green PEX6 in Amelogenesis imperfecta

    Level 3: Skeletal dysplasias
    Level 2: Skeletal disorders
    Version 2.14
    Latest signed off version: v2.2 (13 Feb 2020)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • UKGTN
    • Eligibility statement prior genetic testing
    Phenotypes
    • Heimler Syndrome 2, 616617 (includes amelogenesis imperfecta)
    • Peroxisome biogenesis disorder 4A (Zellweger), 614862
    • Peroxisome biogenesis disorder 4B, 614863

    Green PEX6 in Fetal anomalies


    Version 1.736
    Latest signed off version: v1.92 (21 Aug 2020)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • PAGE DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP 4
    • ZELLWEGER SYNDROME

    Green PEX6 in DDG2P


    Version 2.50
    Latest signed off version: v2.2 (13 Feb 2020)

    Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • ZELLWEGER SYNDROME 214100
    • PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP 4 601498

    Amber PEX6 in Genetic epilepsy syndromes

    Level 3: Inherited Epilepsy Syndromes
    Level 2: Neurology and neurodevelopmental disorders
    Version 2.449
    Latest signed off version: v2.2 (13 Feb 2020)

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Wessex and West Midlands GLH
    • NHS GMS
    • Literature
    Phenotypes
    • Peroxisome biogenesis disorder 4A (Zellweger) 614862
    • Peroxisome biogenesis disorder 4B 614863

    Green PEX6 in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.1381
    Latest signed off version: v3.2 (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
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Peroxisome biogenesis disorder 4A (Zellweger), 614862Peroxisome biogenesis disorder 4B, 614863
    • ZELLWEGER SYNDROME (ZWS)

    Green PEX6 in Hereditary ataxia - adult onset


    Version 2.90
    Latest signed off version: v2.13 (6 Oct 2020)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    • Wessex and West Midlands GLH
    Phenotypes
    • Peroxisome biogenesis disorder 4A, 614862
    • Peroxisome biogenesis disorder 4B, 614863

    Amber PEX6 in Retinal disorders

    Level 3: Posterior segment abnormalities
    Level 2: Ophthalmological disorders
    Version 2.222
    Latest signed off version: v2.195 (5 Aug 2021)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Expert list
    Phenotypes
    • Heimler syndrome 2, OMIM:616617, MONDO:0014709
    Tags
    • for-review

    Red PEX6 in Structural eye disease


    Version 1.83
    Latest signed off version: v1.3 (4 Mar 2020)

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    Phenotypes
    • Peroxisome biogenesis disorder 4B, 614863

    Red PEX6 in Childhood onset dystonia or chorea or related movement disorder


    Version 1.160
    Latest signed off version: v1.137 (5 Aug 2021)

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

    Green PEX6 in Severe Paediatric Disorders


    Version 1.84

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Heimler syndrome 2, 616617
    • Peroxisome biogenesis disorder 4B, 614863
    • Peroxisome biogenesis disorder 4A (Zellweger), 614862