PEX16

peroxisomal biogenesis factor 16
OMIM: 603360, Gene2Phenotype

22 panels

Panel Reviews Mode of inheritance Details
22 panels
Green PEX16 in Peroxisomal disorders

Level 3: Peroxisomal disorders
Level 2: Metabolic disorders
Version 1.19

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
  • Expert list
Phenotypes
  • Peroxisome biogenesis disorder 8A, (Zellweger), 614876
  • Zellweger Syndrome
  • Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum
  • Peroxisomal biogenesis disorders
Green PEX16 in Neonatal cholestasis

Level 3: Liver disease
Level 2: Gastroenterological disorders
Version 1.26

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Emory Genetics Laboratory
Phenotypes
  • Peroxisome biogenesis disorder 8A (Zellweger) 614876
Green PEX16 in Fetal hydrops

Level 3: Fetal disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.64

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Other
Phenotypes
  • Peroxisome biogenesis disorder 8B, 614877
  • Peroxisome biogenesis disorder 8A, (Zellweger), 614876
Green PEX16 in White matter disorders and cerebral calcification - narrow panel


Version 3.35
Latest signed off version: v3.0 (22 Mar 2023)

Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    Phenotypes
    • Peroxisome-Associated Disorders & Zellweger Syndrome
    • Peroxisome biogenesis disorder 8A, (Zellweger)
    • Peroxisome biogenesis disorder 8B
    • PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP 9
    Green PEX16 in Ataxia and cerebellar anomalies - narrow panel


    Version 4.59
    Latest signed off version: v4.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Hereditary ataxia and cerebellar anomalies - childhood onset
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    Phenotypes
    • Zellweger syndrome (614876)
    • Peroxisome biogenesis disorder 8B (#614877) infantile progressive ataxia and spastic paresis
    Green PEX16 in Bilateral congenital or childhood onset cataracts

    Level 3: Anterior segment abnormalities
    Level 2: Ophthalmological disorders
    Version 4.12
    Latest signed off version: v4.0 (22 Mar 2023)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • UKGTN
    Phenotypes
    • Peroxisome biogenesis disorder 8A, (Zellweger)
    • Peroxisome biogenesis disorder
    Green PEX16 in Adult onset leukodystrophy


    Version 3.24
    Latest signed off version: v3.0 (22 Mar 2023)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    • Yorkshire and North East GLH
    Phenotypes
    • Peroxisome biogenesis disorder 8A (Zellweger), 614876
    • Peroxisome biogenesis disorder 8B, 614877
    Green PEX16 in Hereditary ataxia

    Level 3: Motor Disorders of the CNS
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.332

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert Review
    Phenotypes
    • Peroxisome biogenesis disorder 8B (#614877) infantile progressive ataxia and spastic paresis
    • Zellweger syndrome (614876)
    Red PEX16 in Ductal plate malformation


    Version 1.29

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Radboud University Medical Center, Nijmegen, Expert list
    Phenotypes
    • Peroxisome biogenesis disorder 8A (Zellweger) (614876)
    • Peroxisome biogenesis disorder 8B (614877)
    Green PEX16 in Malformations of cortical development

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 4.26
    Latest signed off version: v4.0 (22 Mar 2023)

    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 8A, (Zellweger), 614876
    • Zellweger Syndrome
    • Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum
    • Peroxisomal biogenesis disorders
    Green PEX16 in Inherited white matter disorders

    Level 3: White matter disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.180

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Peroxisome-Associated Disorders & Zellweger Syndrome
    • Peroxisome biogenesis disorder 8A, (Zellweger)
    • Peroxisome biogenesis disorder 8B
    • PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP 9
    Green PEX16 in Arthrogryposis

    Level 3: Neuromuscular disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 5.22
    Latest signed off version: v5.0 (22 Mar 2023)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • UKGTN
    • Radboud University Medical Center, Nijmegen
    • Illumina TruGenome Clinical Sequencing Services
    Phenotypes
    • Peroxisome biogenesis disorder 8A (Zellweger) 614876
    Red PEX16 in Adult onset neurodegenerative disorder


    Version 4.47
    Latest signed off version: v4.34 (31 Jul 2023)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Wessex and West Midlands GLH
    • Yorkshire and North East GLH
    • NHS GMS
    • London North GLH
    Phenotypes
    • Zellweger syndrome (614876)
    • Peroxisome biogenesis disorder 8B (#614877) infantile progressive ataxia and spastic paresis
    Green PEX16 in Undiagnosed metabolic disorders

    Level 3: Specific metabolic abnormalities
    Level 2: Metabolic disorders
    Version 1.617

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Disorders of peroxisome biogenesis
    • Peroxisome biogenesis disorder 8A, (Zellweger), 614876
    • Zellweger Syndrome
    • Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum
    • Peroxisomal biogenesis disorders
    Green PEX16 in Likely inborn error of metabolism - targeted testing not possible


    Version 4.137
    Latest signed off version: v4.0 (22 Mar 2023)

    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 Disorders, Zellweger Syndrome Spectrum
    • Peroxisome biogenesis disorder 8A, (Zellweger), 614876
    • Peroxisomal biogenesis disorders
    • Zellweger Syndrome
    Green PEX16 in Fetal anomalies


    Version 3.154
    Latest signed off version: v3.0 (22 Mar 2023)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • PAGE DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP 9
    • ZELLWEGER SYNDROME
    Green PEX16 in DDG2P


    Version 3.87
    Latest signed off version: v3.1 (22 Mar 2023)

    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 9 603360
    Green PEX16 in Intellectual disability - microarray and sequencing

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 5.524
    Latest signed off version: v5.0 (22 Mar 2023)

    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 8A, (Zellweger), 614876Peroxisome biogenesis disorder 8B, 614877
    • PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP 9 (PBD-CG9)
    Green PEX16 in Hereditary ataxia with onset in adulthood


    Version 4.31
    Latest signed off version: v4.0 (22 Mar 2023)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Wessex and West Midlands GLH
    • Expert Review Green
    • Hereditary ataxia v1.148
    Phenotypes
    • Zellweger syndrome (614876)
    • Peroxisome biogenesis disorder 8B (#614877) infantile progressive ataxia and spastic paresis
    • Peroxisome biogenesis disorder 8B, 614877
    • Peroxisome biogenesis disorder 8A, 614876
    Red PEX16 in Structural eye disease


    Version 3.77
    Latest signed off version: v3.0 (22 Mar 2023)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    Phenotypes
    • Peroxisome biogenesis disorder 8B, 614877
    Red PEX16 in Childhood onset dystonia, chorea or related movement disorder


    Version 3.75
    Latest signed off version: v3.0 (22 Mar 2023)

    review Not set
    Sources
    • Expert Review Red
    • London North GLH
    Green PEX16 in Severe Paediatric Disorders


    Version 1.184

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Peroxisome biogenesis disorder 8A (Zellweger), 614876
    • Peroxisome biogenesis disorder 8B, 614877