PanelApp (stage)
  1. Genes and Genomic Entities
  2. PEX16

PEX16

peroxisomal biogenesis factor 16
OMIM: 603360, Gene2Phenotype

17 panels

Panel Reviews Mode of inheritance Details
17 panels

Amber PEX16 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 Amber
    • Literature
    Phenotypes
    • Peroxisome biogenesis disorder 8A (Zellweger) MIM#614876

    Green PEX16 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 PEX16 in Cataract


    Level 2: Ophthalmological disorders
    Version 0.366

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

    Red PEX16 in Cholestasis


    Level 2: Gastroenterological disorders
    Version 0.240

    Component of the following Super Panels:

  • Liverome Superpanel

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Victorian Clinical Genetics Services
    Phenotypes
    • Peroxisome biogenesis disorder 13A (Zellweger), MIM# 614887

    Green PEX16 in Hydrops fetalis


    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 0.313

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

    Green PEX16 in Mendeliome


    Version 1.1891

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Peroxisome biogenesis disorder 8A (Zellweger) - MIM#614876
    • Peroxisome biogenesis disorder 8B - MIM#614877

    Green PEX16 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 PEX16 in Callosome


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.522

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

    Green PEX16 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 PEX16 in Ataxia - paediatric


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.26

    Component of the following Super Panels:

  • Ataxia_Superpanel
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Royal Melbourne Hospital
    • Expert Review Green
    Phenotypes
    • Zellweger syndrome (614876)
    • Peroxisome biogenesis disorder 8B (#614877) infantile progressive ataxia and spastic paresis
    • Peroxisome biogenesis disorder 8A, 614876
    • Peroxisome biogenesis disorder 8B, 614877

    Green PEX16 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 8A (Zellweger), 614876
    • Peroxisome biogenesis disorder 8B, 614877

    Green PEX16 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 8A, (Zellweger), 614876

    Red PEX16 in Additional findings_Paediatric


    Level 2: Screening
    Version 0.278

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • BabySeq Category C gene
    Phenotypes
    • Zellweger syndrome

    Green PEX16 in Fetal anomalies


    Version 1.255

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    • Literature
    Phenotypes
    • Peroxisome biogenesis disorder 8A (Zellweger), MIM# 614876

    Green PEX16 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 8A, (Zellweger), 614876

    Red PEX16 in BabyScreen+ newborn screening


    Level 2: Screening
    Version 1.113

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • BabySeq Category C gene
    • Expert Review Red
    Phenotypes
    • Zellweger syndrome

    Green PEX16 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 8A, (Zellweger), 614876