1. Genes and Genomic Entities
  2. PEX7

PEX7

peroxisomal biogenesis factor 7
OMIM: 601757, Gene2Phenotype

25 panels

Panel Reviews Mode of inheritance Details
25 panels
Green PEX7 in Chondrodysplasia punctata

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 1.5

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Peroxisome biogenesis disorder 9B, OMIM:614879
  • Rhizomelic chondrodysplasia punctata, type 1, OMIM:215100
Green PEX7 in Peroxisomal disorders

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

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • UKGTN
Phenotypes
  • Peroxisome biogenesis disorder 9B, OMIM:614879
  • Rhizomelic chondrodysplasia punctata, type 1, OMIM:215100
Red PEX7 in Glaucoma (developmental)

Level 3: Anterior segment abnormalities
Level 2: Ophthalmological disorders
Version 1.45

review Not set
Sources
  • NHS GMS
  • Emory Genetics Laboratory
Phenotypes
  • Eye Disorders
Red PEX7 in Neonatal cholestasis

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

review Not set
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
  • Emory Genetics Laboratory
Phenotypes
  • Peroxisome biogenesis disorder 9B 614879
  • Rhizomelic chondrodysplasia punctata, type 1 215100
Green PEX7 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 9B, 614879
Green PEX7 in Palmoplantar keratodermas


Version 3.25
Latest signed off version: v3.0 (22 Mar 2023)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Refsum disease
Tags
  • Q1_24_demote_red
Green PEX7 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 9B, OMIM:614879
  • Rhizomelic chondrodysplasia punctata, type 1, OMIM:215100
Green PEX7 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 9B, 614879
Red PEX7 in Ductal plate malformation


Version 1.29

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Radboud University Medical Center, Nijmegen, Expert list
Phenotypes
  • Peroxisome biogenesis disorder 9B (614879)
Red PEX7 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
    • Expert Review Red
    • NHS GMS
    • Literature
    Phenotypes
    • Rhizomelic chondrodysplasia punctata type 1 (Peroxisomal disorders)
    • Peroxisome biogenesis disorder 9B, 614879
    • Rhizomelic chondrodysplasia punctata, type 1, 215100
    Red PEX7 in Autism


    Version 0.36

    		review Not set
    Sources
    • Expert Review Red
    • SFARI
    Green PEX7 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
    • Radboud University Medical Center, Nijmegen
    • Emory Genetics Laboratory
    • UKGTN
    • Illumina TruGenome Clinical Sequencing Services
    Phenotypes
    • Rhizomelic chondrodysplasia punctata, type 1 215100
    Green PEX7 in Skeletal dysplasia

    Level 3: Skeletal dysplasias
    Level 2: Skeletal disorders
    Version 4.56
    Latest signed off version: v4.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Illumina TruGenome Clinical Sequencing Services
    • UKGTN
    • Expert Review Green
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Rhizomelic chondrodysplasia punctata, type 1, 215100
    • Rhizomelic CDP type 1
    • Rhizomelic chondrodysplasia punctata, type 1, 215100
    Green PEX7 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
    • Rhizomelic chondrodysplasia punctata type 1 (Peroxisomal disorders)
    • Peroxisome biogenesis disorder 9B 614879
    • Rhizomelic chondrodysplasia punctata, type 1
    Green PEX7 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
    • Peroxisome biogenesis disorder 9B 614879
    • Rhizomelic chondrodysplasia punctata, type 1
    • Rhizomelic chondrodysplasia punctata type 1 (Peroxisomal disorders)
    Green PEX7 in Fetal anomalies


    Version 3.155
    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 11
    • RHIZOMELIC CHONDRODYSPLASIA PUNCTATA TYPE 1
    • REFSUM DISEASE
    Green PEX7 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
    • REFSUM DISEASE 266500
    • RHIZOMELIC CHONDRODYSPLASIA PUNCTATA TYPE 1 215100
    • PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP 11 601757
    Green PEX7 in Hereditary neuropathy

    Level 3: Motor and Sensory Disorders of the PNS
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.477

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • London North GLH
    • Expert Review Green
    • UKGTN
    • Emory Genetics Laboratory
    Phenotypes
    • Hereditary Neuropathies
    • Refsum disease
    Amber PEX7 in Early onset or syndromic epilepsy

    Level 3: Inherited Epilepsy Syndromes
    Level 2: Neurology and neurodevelopmental disorders
    Version 4.193
    Latest signed off version: v4.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Unexplained death in infancy and sudden unexplained death in childhood

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Wessex and West Midlands GLH
    • NHS GMS
    • Victorian Clinical Genetics Services
    Phenotypes
    • Rhizomelic chondrodysplasia punctata, type 1 215100
    Green PEX7 in Intellectual disability - microarray and sequencing

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 5.532
    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
    • Victorian Clinical Genetics Services
    • Expert Review Green
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Rhizomelic chondrodysplasia punctata, type 1, 215100
    • Peroxisome biogenesis disorder 9B, 614879
    • REFSUM DISEASE (RD)
    Green PEX7 in Retinal disorders

    Level 3: Posterior segment abnormalities
    Level 2: Ophthalmological disorders
    Version 4.89
    Latest signed off version: v4.0 (22 Mar 2023)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • Eye Disorders
    • Refsum disease
    Red PEX7 in Structural eye disease


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

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Red
    Phenotypes
    • Peroxisome biogenesis disorder 9B, 614879
    • Rhizomelic chondrodysplasia punctata, type 1, 215100
    • Eye Disorders
    Amber PEX7 in Hereditary neuropathy or pain disorder


    Version 3.94
    Latest signed off version: v3.24 (15 May 2023)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • UKGTN
    • Emory Genetics Laboratory
    • London North GLH
    • NHS GMS
    • NHS GMS
    • London North GLH
    Phenotypes
    • Hereditary Neuropathies
    • Refsum disease
    Red PEX7 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 PEX7 in Severe Paediatric Disorders


    Version 1.184

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Rhizomelic chondrodysplasia punctata, type 1, 215100
    • Peroxisome biogenesis disorder 9B, 614879