PanelApp
  1. Genes and Genomic Entities
  2. PEX2

PEX2

peroxisomal biogenesis factor 2
OMIM: 170993, ClinGen, DECIPHER

18 panels

Panel Reviews Mode of inheritance Details
18 panels

Amber PEX2 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 5A (Zellweger) MIM#614866

    Amber PEX2 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 5A (Zellweger) - MIM#614866

    Green PEX2 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 5A (Zellweger) MIM#614866

    Green PEX2 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 Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Peroxisome biogenesis disorder 5A (Zellweger) MIM#614866

    Green PEX2 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 PEX2 in Mendeliome


    Version 1.4216

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Peroxisome biogenesis disorder 5A (Zellweger) - MIM#614866
    • Peroxisome biogenesis disorder 5B - MIM#614867

    Green PEX2 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 PEX2 in Genetic Epilepsy


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.362

    Component of the following Super Panels:

  • Progressive Neurological Conditions

    		•  2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Peroxisome biogenesis disorder 5A (Zellweger), MIM#614866

    Green PEX2 in Callosome


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.588

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

    Green PEX2 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 5A (Zellweger) MIM#614866
    • Peroxisome biogenesis disorder 5B MIM#614867

    Green PEX2 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 5B, 614867
    • Peroxisome biogenesis disorder 5A (Zellweger) 614866

    Green PEX2 in Syndromic Retinopathy


    Level 2: Ophthalmological disorders
    Version 0.245

    Component of the following Super Panels:

  • Retinal Disorders Superpanel

    		•  1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • RetNet
    • Expert Review Green

    Green PEX2 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 5A (Zellweger), 614866

    Green PEX2 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 PEX2 in Fetal anomalies


    Version 1.522

    		2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    • Literature
    Phenotypes
    • Peroxisome biogenesis disorder 5A (Zellweger), MIM# 614866

    Green PEX2 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 5A (Zellweger), MIM#614866
    • Peroxisome biogenesis disorder 5B, MIM#614867

    Red PEX2 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 5A (Zellweger) MIM#614866

    Green PEX2 in Prepair 500+


    Level 2: Screening
    Version 2.0

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Peroxisome biogenesis disorder 5A (Zellweger), MIM#614866
    • Peroxisome biogenesis disorder 5B, MIM#614867