PanelApp
  1. Genes and Genomic Entities
  2. PEX6

PEX6

peroxisomal biogenesis factor 6
OMIM: 601498, ClinGen, DECIPHER

21 panels

Panel Reviews Mode of inheritance Details
21 panels

Green PEX6 in Polymicrogyria and Schizencephaly


Level 2: Neurology and neurodevelopmental disorders
Version 1.4

Component of the following Super Panels:

  • Malformations of cortical development_Superpanel

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

    Amber PEX6 in Arthrogryposis


    Level 2: Neurology and neurodevelopmental disorders
    Version 2.6

    Component of the following Super Panels:

  • Neuromuscular Superpanel

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

    Green PEX6 in Cataract


    Level 2: Ophthalmological disorders
    Version 2.0

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

    Green PEX6 in Cholestasis


    Level 2: Gastroenterological disorders
    Version 2.2

    Component of the following Super Panels:

  • Liverome Superpanel

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

    Red PEX6 in Hydrops fetalis


    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 1.5

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

    Green PEX6 in Mendeliome


    Version 2.588

    		2 reviews 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 1.8

    Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • Progressive Neurological Conditions

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

    Green PEX6 in Genetic Epilepsy


    Level 2: Neurology and neurodevelopmental disorders
    Version 2.42

    Component of the following Super Panels:

  • Progressive Neurological Conditions

    		•  2 reviews 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

    Red PEX6 in Callosome


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.25

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

    Green PEX6 in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 2.145

    		1 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 Skeletal dysplasia

    Level 3: Skeletal dysplasias
    Level 2: Skeletal disorders
    Version 1.151

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

    Green PEX6 in Leukodystrophy


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.10

    Component of the following Super Panels:

  • Progressive Neurological Conditions

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

    Green PEX6 in Usher Syndrome


    Level 2: Ophthalmological disorders
    Version 2.0

    Component of the following Super Panels:

  • Retinal Disorders Superpanel

    		•  1 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 1.0

    		0 reviews 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 1.4

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

    Green PEX6 in Additional findings_Paediatric


    Level 2: Screening
    Version 1.1

    		0 reviews 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 2.0

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

    Green PEX6 in Fetal anomalies


    Version 2.81

    		1 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 3.0

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Peroxisome biogenesis disorder 4A (Zellweger), MIM# 614862
    • Peroxisome biogenesis disorder-4B, MIM# 614863

    Red PEX6 in Genomic newborn screening: BabyScreen+


    Level 2: Screening
    Version 2.7

    		1 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 3.0

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Peroxisome biogenesis disorder 4A (Zellweger), MIM# 614862
    • Peroxisome biogenesis disorder-4B, MIM# 614863