PEX1

peroxisomal biogenesis factor 1
OMIM: 602136, Gene2Phenotype

21 panels

Panel Reviews Mode of inheritance Details
21 panels

Green PEX1 in Peroxisomal disorders

Level 3: Peroxisomal disorders
Level 2: Metabolic disorders
Version 1.6

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
  • UKGTN
  • Expert list
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Peroxisome biogenesis disorder 1A (Zellweger) 214100
  • Peroxisome biogenesis disorder 1B (NALD/IRD) 601539

Green PEX1 in Neonatal cholestasis

Level 3: Liver disease
Level 2: Gastroenterological disorders
Version 1.17

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • UKGTN
  • Emory Genetics Laboratory
Phenotypes
  • Neonatal and Adult Cholestasis
  • Peroxisome Biogenesis Disorder 1A (Zellweger), 214100
  • Zellweger syndrome

Green PEX1 in Fetal hydrops

Level 3: Fetal disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.26

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Other
Phenotypes
  • Zellweger
  • peroxisome biogenesis disorder 1A, 214100

Green PEX1 in White matter disorders and cerebral calcification - narrow panel


Version 1.32
Latest signed off version: v1.12 (2 Mar 2020)

Component of the following Super Panels:

  • White matter disorders - childhood onset
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    Phenotypes
    • Peroxisome-Associated Disorders & Zellweger Syndrome
    • Peroxisome biogenesis disorder 1A,B
    • General Leukodystrophy & Mitochondrial Leukoencephalopathy
    • Peroxisome biogenesis disorder 1A (Zellweger)

    Green PEX1 in Cholestasis


    Version 1.81
    Latest signed off version: v1.21 (20 Aug 2020)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Other
    • NHS GMS
    Phenotypes
    • Peroxisome Biogenesis Disorder 1A (Zellweger), 214100
    • Zellweger syndrome
    • Neonatal and Adult Cholestasis

    Green PEX1 in Cataracts

    Level 3: Anterior segment abnormalities
    Level 2: Ophthalmological disorders
    Version 2.67
    Latest signed off version: v2.2 (19 Feb 2020)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • UKGTN
    Phenotypes
    • Peroxisome biogenesis disorder 1A (Zellweger)
    • Refsum disease infantile
    • Adrenoleukodystrophy neonatal
    • Peroxisome biogenesis disorder

    Green PEX1 in White matter disorders - adult onset


    Version 1.8
    Latest signed off version: v1.6 (15 Oct 2020)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    • Yorkshire and North East GLH
    Phenotypes
    • Peroxisome biogenesis disorder 1B (NALD/IRD), 601539

    Red PEX1 in Ductal plate malformation


    Version 1.16

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Expert list
    Phenotypes
    • Peroxisome biogenesis disorder 1B (NALD/IRD) (601539)
    • Peroxisome biogenesis disorder 1A (Zellweger) (214100)

    Green PEX1 in Malformations of cortical development

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 2.44
    Latest signed off version: v2.2 (25 Feb 2020)

    Component of the following Super Panels:

  • Cerebral malformations
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Literature
    • Expert Review Green
    Phenotypes
    • Disorders of peroxisome biogenesis
    • Peroxisome biogenesis disorder 1A (Zellweger), 214100
    • Peroxisome biogenesis disorder 1B (NALD/IRD), 601539

    Green PEX1 in Inherited white matter disorders

    Level 3: White matter disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.87

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Peroxisome-Associated Disorders & Zellweger Syndrome
    • General Leukodystrophy & Mitochondrial Leukoencephalopathy
    • Peroxisome biogenesis disorder 1A,B
    • Peroxisome biogenesis disorder 1A (Zellweger)

    Green PEX1 in Arthrogryposis

    Level 3: Neuromuscular disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.76
    Latest signed off version: v3.2 (13 Feb 2020)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Illumina TruGenome Clinical Sequencing Services
    • Radboud University Medical Center, Nijmegen
    • Emory Genetics Laboratory
    • UKGTN
    Phenotypes
    • Peroxisome biogenesis disorder 1A (Zellweger) 214100

    Green PEX1 in Undiagnosed metabolic disorders

    Level 3: Specific metabolic abnormalities
    Level 2: Metabolic disorders
    Version 1.450

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Disorders of peroxisome biogenesis
    • Peroxisome biogenesis disorder 1A (Zellweger) 214100
    • Peroxisome biogenesis disorder 1B (NALD/IRD) 601539

    Green PEX1 in Inborn errors of metabolism


    Version 2.105
    Latest signed off version: v2.104 (16 Dec 2021)

    Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • London North GLH
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • Disorders of peroxisome biogenesis
    • Peroxisome biogenesis disorder 1B (NALD/IRD) 601539
    • Peroxisome biogenesis disorder 1A (Zellweger) 214100

    Green PEX1 in Amelogenesis imperfecta

    Level 3: Skeletal dysplasias
    Level 2: Skeletal disorders
    Version 2.9
    Latest signed off version: v2.2 (13 Feb 2020)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • UKGTN
    • Eligibility statement prior genetic testing
    Phenotypes
    • Heimler Syndrome 1, 234580 (includes amelogenesis imperfecta)
    • hypomineralized amelogenesis imperfecta
    • amelogenesis imperfecta
    • Peroxisomal Biogenesis Disorder 1A (NALD / IRD) 601539
    • Peroxisome biogenesis disorder 1A (Zellweger), 214100

    Green PEX1 in Fetal anomalies


    Version 1.638
    Latest signed off version: v1.637 (30 Jun 2021)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • PAGE DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • ADRENOLEUKODYSTROPHY NEONATAL
    • PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP 1
    • INFANTILE REFSUM DISEASE

    Green PEX1 in DDG2P


    Version 2.21
    Latest signed off version: v2.2 (13 Feb 2020)

    Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP 1 602136
    • ADRENOLEUKODYSTROPHY NEONATAL 202370
    • INFANTILE REFSUM DISEASE 266510

    Amber PEX1 in Genetic epilepsy syndromes

    Level 3: Inherited Epilepsy Syndromes
    Level 2: Neurology and neurodevelopmental disorders
    Version 2.312
    Latest signed off version: v2.311 (16 Dec 2021)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Wessex and West Midlands GLH
    • NHS GMS
    • Victorian Clinical Genetics Services
    Phenotypes
    • Peroxisome biogenesis disorder 1A (Zellweger) 214100
    • Peroxisome biogenesis disorder 1B (NALD/IRD) 601539
    • Adrenoleukodystrophy

    Green PEX1 in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.1002
    Latest signed off version: v3.1001 (16 Dec 2021)

    Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Peroxisome biogenesis disorder 1A (Zellweger), 214100Peroxisome biogenesis disorder 1B (NALD/IRD), 601539
    • PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP 1 (PBD-CG1)

    Green PEX1 in Retinal disorders

    Level 3: Posterior segment abnormalities
    Level 2: Ophthalmological disorders
    Version 2.173
    Latest signed off version: v2.7 (25 Feb 2020)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • Genetic Retinal Degeneration Conditions

    Red PEX1 in Childhood onset dystonia or chorea or related movement disorder


    Version 1.87
    Latest signed off version: v1.86 (16 Dec 2021)

    review Not set
    Sources
    • Expert Review Red
    • London North GLH

    Green PEX1 in Severe Paediatric Disorders


    Version 1.66

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Peroxisome biogenesis disorder 1A (Zellweger), 214100
    • Heimler syndrome 1, 234580
    • Peroxisome biogenesis disorder 1B (NALD/IRD), 601539