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

PEX1

peroxisomal biogenesis factor 1
OMIM: 602136, ClinGen, DECIPHER

21 panels

Panel Reviews Mode of inheritance Details
21 panels

Green PEX1 in Polymicrogyria and Schizencephaly


Level 2: Neurology and neurodevelopmental disorders
Version 0.195

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 1A (Zellweger) (MIM#214100)

    Green PEX1 in Arthrogryposis


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.416

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

    Green PEX1 in Cataract


    Level 2: Ophthalmological disorders
    Version 0.373

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

    Green PEX1 in Cholestasis


    Level 2: Gastroenterological disorders
    Version 1.0

    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 1A (Zellweger), MIM# 214100

    Green PEX1 in Hydrops fetalis


    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 0.324

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

    Green PEX1 in Mendeliome


    Version 1.2302

    		1 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 0.54

    Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • Progressive Neurological Conditions

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

    Green PEX1 in Genetic Epilepsy


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.108

    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 1A (Zellweger) 214100

    Green PEX1 in Callosome


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.540

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

    Green PEX1 in Deafness_IsolatedAndComplex


    Level 2: Hearing and ear disorders
    Version 1.210

    		1 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 1.63

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genetic Health Queensland
    Phenotypes
    • Heimler syndrome 1 MIM#234580
    • Peroxisome biogenesis disorder 1A (Zellweger) MIM#214100
    • Peroxisome biogenesis disorder 1B (NALD/IRD) MIM#601539

    Green PEX1 in Leukodystrophy - paediatric


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.318

    Component of the following Super Panels:

  • Leukodystrophy_Superpanel
  • Progressive Neurological Conditions

    		•  0 reviews 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

    		•  1 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 0.219

    Component of the following Super Panels:

  • Retinal Disorders Superpanel

    		•  1 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

    		0 reviews 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

    		0 reviews 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 1.11

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

    Green PEX1 in Fetal anomalies


    Version 1.313

    		1 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 1.1566

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

    Red PEX1 in BabyScreen+ newborn screening


    Level 2: Screening
    Version 1.116

    		1 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 1.5

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