1. Genes and Genomic Entities
  2. PEX26

PEX26

peroxisomal biogenesis factor 26
OMIM: 608666, Gene2Phenotype

19 panels

Panel Reviews Mode of inheritance Details
19 panels
Green PEX26 in Peroxisomal disorders

Level 3: Peroxisomal disorders
Level 2: Metabolic disorders
Version 1.20

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Emory Genetics Laboratory
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Peroxisome biogenesis disorder 7A (Zellweger) 61487
  • Peroxisome biogenesis disorder 7B 614873
Green PEX26 in Neonatal cholestasis

Level 3: Liver disease
Level 2: Gastroenterological disorders
Version 1.29

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Emory Genetics Laboratory
Phenotypes
  • Peroxisome biogenesis disorder 7A (Zellweger)614872
Green PEX26 in Fetal hydrops

Level 3: Fetal disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.95

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Other
Phenotypes
  • Peroxisome biogenesis disorder 7B, 614873
  • Peroxisome biogenesis disorder 7A (Zellweger), 614872
Green PEX26 in White matter disorders and cerebral calcification - narrow panel


Level 2: Neurology
Version 7.11
Latest signed off version: v7.0 (30 Apr 2025)

Component of the following Super Panels:

  • Childhood onset leukodystrophy

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    Phenotypes
    • Peroxisome-Associated Disorders & Zellweger Syndrome
    Green PEX26 in Cholestasis


    Level 2: Gastrohepatology
    Version 3.19
    Latest signed off version: v3.0 (22 Mar 2023)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Other
    • NHS GMS
    Phenotypes
    • Peroxisome biogenesis disorder 7A (Zellweger)614872
    Green PEX26 in Bilateral congenital or childhood onset cataracts


    Level 2: Ophthalmology
    Version 7.6
    Latest signed off version: v7.0 (30 Apr 2025)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • UKGTN
    Phenotypes
    • Adrenoleukodystrophy neonatal
    • Peroxisome biogenesis disorder 7A (Zellweger)
    • Refsum disease infantile
    • Peroxisome biogenesis disorder
    Green PEX26 in Adult onset leukodystrophy


    Level 2: Neurology
    Version 6.8
    Latest signed off version: v6.0 (30 Apr 2025)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    • Yorkshire and North East GLH
    Phenotypes
    • Peroxisome biogenesis disorder 7B, 614873
    • Peroxisome biogenesis disorder 7A (Zellweger), 614872
    Red PEX26 in Ductal plate malformation


    Version 1.31

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Radboud University Medical Center, Nijmegen, Expert list
    Phenotypes
    • Peroxisome biogenesis disorder 7A (Zellweger) (614872)
    • Peroxisome biogenesis disorder 7B (614873)
    Green PEX26 in Malformations of cortical development


    Level 2: Neurology
    Version 7.30
    Latest signed off version: v7.0 (30 Oct 2024)

    Component of the following Super Panels:

  • Cerebral malformation

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Literature
    • Expert Review Green
    Phenotypes
    • Disorders of peroxisome biogenesis
    • Peroxisome biogenesis disorder 7A (Zellweger), 61487
    • Peroxisome biogenesis disorder 7B, 614873
    Green PEX26 in Inherited white matter disorders

    Level 3: White matter disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.186

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Illumina TruGenome Clinical Sequencing Services
    • Radboud University Medical Center, Nijmegen
    • Emory Genetics Laboratory
    • UKGTN
    • Expert list
    Phenotypes
    • Peroxisome-Associated Disorders & Zellweger Syndrome
    Green PEX26 in Arthrogryposis


    Level 2: Neurology
    Version 9.24
    Latest signed off version: v9.0 (30 Apr 2025)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Radboud University Medical Center, Nijmegen
    • Emory Genetics Laboratory
    • UKGTN
    • Illumina TruGenome Clinical Sequencing Services
    Phenotypes
    • Peroxisome biogenesis disorder 7A (Zellweger) 614872
    Green PEX26 in Undiagnosed metabolic disorders

    Level 3: Specific metabolic abnormalities
    Level 2: Metabolic disorders
    Version 1.642

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Disorders of peroxisome biogenesis
    • Peroxisome biogenesis disorder 7A (Zellweger) 61487
    • Peroxisome biogenesis disorder 7B 614873
    Green PEX26 in Likely inborn error of metabolism


    Level 2: Metabolic
    Version 8.91
    Latest signed off version: v8.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • Unexplained death in infancy and sudden unexplained death in childhood

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • London North GLH
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • Disorders of peroxisome biogenesis
    • Peroxisome biogenesis disorder 7A (Zellweger) 61487
    • Peroxisome biogenesis disorder 7B 614873
    Green PEX26 in Amelogenesis imperfecta


    Level 2: Musculoskeletal
    Version 4.26
    Latest signed off version: v4.0 (30 Apr 2025)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    • Expert Review
    • Literature
    Phenotypes
    • Amelogenesis Imperfecta, MONDO:0019507
    • Heimler syndrome
    Green PEX26 in Fetal anomalies


    Level 2: Fetal (including NIPD)
    Version 6.140
    Latest signed off version: v6.0 (30 Apr 2025)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • PAGE DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP 8
    • ADRENOLEUKODYSTROPHY NEONATAL
    • ZELLWEGER SYNDROME
    • INFANTILE REFSUM DISEASE
    Green PEX26 in DDG2P


    Version 6.424
    Latest signed off version: v6.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • ZELLWEGER SYNDROME 214100
    • PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP 8 608666
    • ADRENOLEUKODYSTROPHY NEONATAL 202370
    • INFANTILE REFSUM DISEASE 266510
    Green PEX26 in Intellectual disability


    Level 2: Developmental disorders
    Version 9.279
    Latest signed off version: v9.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Peroxisome biogenesis disorder 7A (Zellweger), 614872Peroxisome biogenesis disorder 7B, 614873
    • INFANTILE REFSUM DISEASE (IRD)
    Red PEX26 in Structural eye disease


    Level 2: Ophthalmology
    Version 4.37
    Latest signed off version: v4.0 (7 Aug 2024)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    Phenotypes
    • Peroxisome biogenesis disorder 7B, 614873
    Red PEX26 in Childhood onset dystonia, chorea or related movement disorder


    Level 2: Neurology
    Version 7.13
    Latest signed off version: v7.0 (30 Apr 2025)

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