PanelApp
  1. Genes and Genomic Entities
  2. PEX6

PEX6

peroxisomal biogenesis factor 6
OMIM: 601498, Gene2Phenotype

20 panels

Panel Reviews Mode of inheritance Details
20 panels

Green PEX6 in Polymicrogyria and Schizencephaly


Level 2: Neurology and neurodevelopmental disorders
Version 0.195

Component of the following Super Panels:

  • Malformations of cortical development_Superpanel

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Peroxisome biogenesis disorder 4A (Zellweger) (MIM#614862)

    Green PEX6 in Arthrogryposis


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.417

    Component of the following Super Panels:

  • Neuromuscular Superpanel

    		•  review Unknown
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green

    Green PEX6 in Cataract


    Level 2: Ophthalmological disorders
    Version 0.373

    		review Unknown
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green

    Green PEX6 in Cholestasis


    Level 2: Gastroenterological disorders
    Version 1.0

    Component of the following Super Panels:

  • Liverome Superpanel

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

    Green PEX6 in Hydrops fetalis


    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 0.324

    		review Unknown
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green

    Green PEX6 in Mendeliome


    Version 1.2374

    		review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Heimler syndrome 2, MIM# 616617
    • Peroxisome biogenesis disorder 4A (Zellweger), MIM# 614862
    • Peroxisome biogenesis disorder 4B, MIM# 614863

    Green PEX6 in Peroxisomal Disorders


    Level 2: Metabolic disorders
    Version 0.54

    Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • Progressive Neurological Conditions

    		•  review Unknown
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green

    Green PEX6 in Genetic Epilepsy


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.119

    Component of the following Super Panels:

  • Progressive Neurological Conditions

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    • Australian Genomics Health Alliance Epilepsy Flagship
    Phenotypes
    • Peroxisome biogenesis disorder 4A (Zellweger), MIM# 614862

    Green PEX6 in Callosome


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.540

    		review Unknown
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green

    Green PEX6 in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.83

    		review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genetic Health Queensland
    Phenotypes
    • Peroxisome biogenesis disorder 4A (Zellweger) MIM#614862
    • Peroxisome biogenesis disorder 4B MIM#614863

    Green PEX6 in Leukodystrophy - paediatric


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.318

    Component of the following Super Panels:

  • Leukodystrophy_Superpanel
  • Progressive Neurological Conditions

    		•  review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Royal Melbourne Hospital
    • Expert Review Green
    Phenotypes
    • Peroxisome biogenesis disorder 4A (Zellweger), 614862
    • Peroxisome biogenesis disorder 4B, 614863

    Green PEX6 in Usher Syndrome


    Level 2: Ophthalmological disorders
    Version 1.5

    Component of the following Super Panels:

  • Retinal Disorders Superpanel

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Royal Melbourne Hospital
    Phenotypes
    • Heimler syndrome 2, 616617

    Green PEX6 in Mackenzie's Mission_Reproductive Carrier Screening


    Level 2: Screening
    Version 0.109

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Peroxisome biogenesis disorder 4A (Zellweger), 614862

    Amber PEX6 in Primary Ovarian Insufficiency_Premature Ovarian Failure

    Level 3: Gonadal and sex development disorders
    Level 2: Endocrine disorders
    Version 0.340

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Perrault syndrome

    Green PEX6 in Additional findings_Paediatric


    Level 2: Screening
    Version 0.278

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • BabySeq Category A gene
    • Expert Review Green
    Phenotypes
    • Zellweger syndrome

    Green PEX6 in Amelogenesis imperfecta


    Level 2: Skeletal disorders
    Version 1.11

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    Phenotypes
    • Heimler syndrome 2, MIM# 616617

    Green PEX6 in Fetal anomalies


    Version 1.314

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    • Literature
    Phenotypes
    • Peroxisome biogenesis disorder 4A (Zellweger) (MIM#614862)

    Green PEX6 in Prepair 1000+


    Level 2: Screening
    Version 1.1586

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Peroxisome biogenesis disorder 4A (Zellweger), 614862

    Red PEX6 in BabyScreen+ newborn screening


    Level 2: Screening
    Version 1.116

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • BabySeq Category A gene
    Phenotypes
    • Peroxisome biogenesis disorder 4A (Zellweger) (MIM#614862)

    Green PEX6 in Prepair 500+


    Level 2: Screening
    Version 1.5

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Peroxisome biogenesis disorder 4A (Zellweger), 614862