PanelApp (stage)
  1. Genes and Genomic Entities
  2. PEX1

PEX1

peroxisomal biogenesis factor 1
OMIM: 602136, Gene2Phenotype

21 panels

Panel Reviews Mode of inheritance Details
21 panels

Green PEX1 in Polymicrogyria and Schizencephaly


Level 2: Neurology and neurodevelopmental disorders
Version 0.189

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 1A (Zellweger) (MIM#214100)

    Green PEX1 in Arthrogryposis


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.411

    Component of the following Super Panels:

  • Neuromuscular Superpanel

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

    Green PEX1 in Cataract


    Level 2: Ophthalmological disorders
    Version 0.366

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

    Green PEX1 in Cholestasis


    Level 2: Gastroenterological disorders
    Version 0.240

    Component of the following Super Panels:

  • Liverome Superpanel

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

    Green PEX1 in Hydrops fetalis


    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 0.313

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

    Green PEX1 in Mendeliome


    Version 1.1891

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Heimler syndrome 1 234580
    • Peroxisome biogenesis disorder 1A (Zellweger) 214100
    • . Peroxisome biogenesis disorder 1B (NALD/IRD) 601539

    Green PEX1 in Peroxisomal Disorders


    Level 2: Metabolic disorders
    Version 0.53

    Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • Progressive Neurological Conditions

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

    Green PEX1 in Genetic Epilepsy


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.33

    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 1A (Zellweger) 214100

    Green PEX1 in Callosome


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.522

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

    Green PEX1 in Deafness_IsolatedAndComplex


    Level 2: Hearing and ear disorders
    Version 1.194

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Heimler syndrome 1, MIM# 234580

    Green PEX1 in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.6063

    		review Unknown
    Sources
    • Genetic Health Queensland
    • Expert Review Green

    Green PEX1 in Leukodystrophy - paediatric


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.308

    Component of the following Super Panels:

  • Leukodystrophy_Superpanel
  • Progressive Neurological Conditions

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Royal Melbourne Hospital
    • Expert Review Green
    Phenotypes
    • Peroxisome biogenesis disorder 1B (NALD/IRD), 601539

    Green PEX1 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 1, 234580

    Green PEX1 in Syndromic Retinopathy


    Level 2: Ophthalmological disorders
    Version 0.209

    Component of the following Super Panels:

  • Retinal Disorders Superpanel

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • RetNet
    • Expert Review Green
    Phenotypes
    • Heimler syndrome 1, 234580

    Green PEX1 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 1A (Zellweger), 214100

    Green PEX1 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 PEX1 in Amelogenesis imperfecta


    Level 2: Skeletal disorders
    Version 1.10

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    Phenotypes
    • Heimler syndrome 1, MIM# 234580

    Green PEX1 in Fetal anomalies


    Version 1.255

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    • Literature
    Phenotypes
    • Peroxisome biogenesis disorder 1A (Zellweger) (MIM#214100)

    Green PEX1 in Prepair 1000+


    Level 2: Screening
    Version 1.9

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Peroxisome biogenesis disorder 1A (Zellweger), 214100

    Red PEX1 in BabyScreen+ newborn screening


    Level 2: Screening
    Version 1.113

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • BabySeq Category A gene
    Phenotypes
    • Peroxisome biogenesis disorder 1A (Zellweger), MIM# 214100

    Green PEX1 in Prepair 500+


    Level 2: Screening
    Version 1.1

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Peroxisome biogenesis disorder 1A (Zellweger), 214100