PanelApp
  1. Genes and Genomic Entities
  2. PEX7

PEX7

peroxisomal biogenesis factor 7
OMIM: 601757, Gene2Phenotype

24 panels

Panel Reviews Mode of inheritance Details
24 panels

Green PEX7 in Skeletal Dysplasia_Fetal


Level 2: Skeletal disorders
Version 0.230

review Unknown
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • Melbourne Genomics Health Alliance Perinatal Autopsy Flagship

Green PEX7 in Arthrogryposis


Level 2: Neurology and neurodevelopmental disorders
Version 0.417

Component of the following Super Panels:

  • Neuromuscular Superpanel

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

    Green PEX7 in Cataract


    Level 2: Ophthalmological disorders
    Version 0.373

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

    Green PEX7 in Chondrodysplasia Punctata


    Level 2: Skeletal disorders
    Version 1.1

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Rhizomelic chondrodysplasia punctata, type 1, MIM# 215100
    • MONDO:0008972

    Red PEX7 in Cholestasis


    Level 2: Gastroenterological disorders
    Version 1.0

    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 2A (Zellweger), MIM# 214110

    Green PEX7 in Hydrops fetalis


    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 0.324

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

    Red PEX7 in Ichthyosis


    Level 2: Dermatological disorders
    Version 1.11

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Expert list
    Phenotypes
    • Peroxisome biogenesis disorder 9B MIM#614879

    Green PEX7 in Mendeliome


    Version 1.2374

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Peroxisome biogenesis disorder 9B, MIM# 614879
    • Rhizomelic chondrodysplasia punctata, type 1, MIM# 215100

    Green PEX7 in Peroxisomal Disorders


    Level 2: Metabolic disorders
    Version 0.54

    Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • Progressive Neurological Conditions

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Peroxisome biogenesis disorder 9B, MIM# 614879
    • Rhizomelic chondrodysplasia punctata, type 1, MIM# 215100

    Green PEX7 in Genetic Epilepsy


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.119

    Component of the following Super Panels:

  • Progressive Neurological Conditions

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    • Australian Genomics Health Alliance Epilepsy Flagship
    • Victorian Clinical Genetics Services
    Phenotypes
    • Peroxisome biogenesis disorder 9B, MIM# 614879

    Green PEX7 in Regression


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.573

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

    Green PEX7 in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.83

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genetic Health Queensland
    Phenotypes
    • Peroxisome biogenesis disorder 9B MIM#614879
    • Rhizomelic chondrodysplasia punctata, type 1 MIM#215100

    Green PEX7 in Skeletal dysplasia

    Level 3: Skeletal dysplasias
    Level 2: Skeletal disorders
    Version 0.305

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Illumina TruGenome Clinical Sequencing Services
    • Expert Review Green
    • UKGTN
    • Radboud University Medical Center, Nijmegen
    • NHS GMS
    • Victorian Clinical Genetics Services
    Phenotypes
    • Rhizomelic CDP type 1
    • Rhizomelic chondrodysplasia punctata, type 1, 215100

    Green PEX7 in Ataxia - adult onset


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.20

    Component of the following Super Panels:

  • Ataxia_Superpanel
  • Neurodegenerative disease - adult onset
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Peroxisome biogenesis disorder 9B, MIM# 614879

    Green PEX7 in Ataxia - paediatric


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.33

    Component of the following Super Panels:

  • Ataxia_Superpanel
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Royal Melbourne Hospital
    • GeneReviews
    Phenotypes
    • Refsum disease
    • Peroxisome biogenesis disorder 9B, MIM#614879

    Green PEX7 in Leukodystrophy - paediatric


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.318

    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 9B, 614879

    Red PEX7 in Hereditary Neuropathy - complex


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.19

    Component of the following Super Panels:

  • Hereditary Neuropathy_CMT_IsolatedAndComplex
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Royal Melbourne Hospital
    Phenotypes
    • Refsum disease
    • Phytanic acid storage disease

    Green PEX7 in Syndromic Retinopathy


    Level 2: Ophthalmological disorders
    Version 0.219

    Component of the following Super Panels:

  • Retinal Disorders Superpanel

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • RetNet
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Refsum disease

    Green PEX7 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
    • Chondrodysplasia punctata, rhizomelic, type 1, 215100 (3)

    Green PEX7 in Additional findings_Paediatric


    Level 2: Screening
    Version 0.278

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • BabySeq Category A gene
    • Expert Review Green
    Phenotypes
    • Rhizomelic chondrodysplasia punctata
    • Refsum disease

    Green PEX7 in Fetal anomalies


    Version 1.314

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    Phenotypes
    • Peroxisome biogenesis disorder 9B, OMIM# 614879
    • Rhizomelic chondrodysplasia punctata, type 1, OMIM# 215100

    Green PEX7 in Prepair 1000+


    Level 2: Screening
    Version 1.1586

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Chondrodysplasia punctata, rhizomelic, type 1, 215100 (3)

    Red PEX7 in BabyScreen+ newborn screening


    Level 2: Screening
    Version 1.116

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • BabySeq Category A gene
    Phenotypes
    • Peroxisome biogenesis disorder 9B, MIM# 614879
    • Rhizomelic chondrodysplasia punctata, type 1, MIM# 215100

    Green PEX7 in Prepair 500+


    Level 2: Screening
    Version 1.5

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Chondrodysplasia punctata, rhizomelic, type 1, 215100 (3)