PanelApp
  1. Genes and Genomic Entities
  2. PEX3

PEX3

peroxisomal biogenesis factor 3
OMIM: 603164, ClinGen, DECIPHER

16 panels

Panel Reviews Mode of inheritance Details
16 panels

Amber PEX3 in Polymicrogyria and Schizencephaly


Level 2: Neurology and neurodevelopmental disorders
Version 0.204

Component of the following Super Panels:

  • Malformations of cortical development_Superpanel

    		•  1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Peroxisome biogenesis disorder 10A (Zellweger) 614882

    Amber PEX3 in Arthrogryposis


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.14

    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 10A (Zellweger) MIM#614882

    Green PEX3 in Cataract


    Level 2: Ophthalmological disorders
    Version 0.537

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Peroxisome biogenesis disorder 10A (Zellweger) 614882

    Red PEX3 in Cholestasis


    Level 2: Gastroenterological disorders
    Version 1.8

    Component of the following Super Panels:

  • Liverome Superpanel

    		•  1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Victorian Clinical Genetics Services
    Phenotypes
    • Peroxisome biogenesis disorder 12A (Zellweger), MIM# 614886

    Green PEX3 in Hydrops fetalis


    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 0.328

    		0 reviews Unknown
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green

    Green PEX3 in Mendeliome


    Version 1.4216

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Peroxisome biogenesis disorder 10A (Zellweger), MIM# 614882
    • Peroxisome biogenesis disorder 10B , MIM# 617370

    Green PEX3 in Peroxisomal Disorders


    Level 2: Metabolic disorders
    Version 0.61

    Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • Progressive Neurological Conditions

    		•  0 reviews Unknown
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green

    Green PEX3 in Genetic Epilepsy


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.362

    Component of the following Super Panels:

  • Progressive Neurological Conditions

    		•  1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    • Australian Genomics Health Alliance Epilepsy Flagship
    • Victorian Clinical Genetics Services
    Phenotypes
    • Peroxisome biogenesis disorder 10A (Zellweger), MIM# 614882
    • Peroxisome biogenesis disorder 10B , MIM# 617370

    Green PEX3 in Callosome


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.588

    		0 reviews Unknown
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green

    Green PEX3 in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.638

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genetic Health Queensland
    Phenotypes
    • Peroxisome biogenesis disorder 10A (Zellweger), MIM# 614882
    • Peroxisome biogenesis disorder 10B , MIM# 617370

    Green PEX3 in Leukodystrophy


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.392

    Component of the following Super Panels:

  • Progressive Neurological Conditions

    		•  0 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Royal Melbourne Hospital
    • Expert Review Green
    Phenotypes
    • Peroxisome biogenesis disorder 10A (Zellweger), 614882
    • ?Peroxisome biogenesis disorder 10B, 617370

    Green PEX3 in Mackenzie's Mission_Reproductive Carrier Screening


    Level 2: Screening
    Version 0.111

    		0 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Peroxisome biogenesis disorder 10A (Zellweger), 614882

    Green PEX3 in Additional findings_Paediatric


    Level 2: Screening
    Version 0.280

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

    Green PEX3 in Fetal anomalies


    Version 1.522

    		2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    • Literature
    Phenotypes
    • Peroxisome biogenesis disorder 10A (Zellweger), MIM# 614882

    Green PEX3 in Prepair 1000+


    Level 2: Screening
    Version 2.15

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Peroxisome biogenesis disorder 10A (Zellweger) MIM#614882
    • Peroxisome biogenesis disorder 10B MIM#617370
    • Peroxisome biogenesis disorder due to PEX3 defect MONDO:0100261

    Red PEX3 in Genomic newborn screening: BabyScreen+


    Level 2: Screening
    Version 1.147

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • BabySeq Category A gene
    Phenotypes
    • Peroxisome biogenesis disorder 10A (Zellweger) 614882