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 1.2

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

Green PEX7 in Peroxisomal disorders

Level 3: Peroxisomal disorders
Level 2: Metabolic disorders
Version 1.6

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

Red PEX7 in Glaucoma (developmental)

Level 3: Anterior segment abnormalities
Level 2: Ophthalmological disorders
Version 1.7

review Not set
Sources
  • Emory Genetics Laboratory
Phenotypes
  • Eye Disorders

Red PEX7 in Neonatal cholestasis

Level 3: Liver disease
Level 2: Gastroenterological disorders
Version 1.4

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 1.16

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

Green PEX7 in Palmoplantar keratodermas


Version 1.3
Signed off v.1.2 on 19 Feb 2020

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Refsum disease

Green PEX7 in Cataracts

Level 3: Anterior segment abnormalities
Level 2: Ophthalmological disorders
Version 2.3
Signed off v.2.2 on 19 Feb 2020

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
Phenotypes
  • Rhizomelic chondrodysplasia punctata type 1
  • Confirmed DD gene for Rhizomelic chondrodysplasia punctata type 1
  • Refsum disease
  • Peroxisome biogenesis disorder

Green PEX7 in White matter disorders - adult onset


Version 1.4
Signed off v.1.2 on 27 Feb 2020

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 1.10

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Radboud University Medical Center, Nijmegen, Expert list
Phenotypes
  • Peroxisome biogenesis disorder 9B (614879)

Green PEX7 in Malformations of cortical development

Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 2.5
Signed off v.2.2 on 25 Feb 2020

Component of the following Super Panels:

  • Cerebral malformations
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Literature
    • Expert Review Green
    Phenotypes
    • Rhizomelic chondrodysplasia punctata type 1 (Peroxisomal disorders)
    • Peroxisome biogenesis disorder 9B, 614879
    • Rhizomelic chondrodysplasia punctata, type 1, 215100

    Red PEX7 in Autism


    Version 0.15

    review Not set
    Sources
    • Expert Review Red
    • SFARI

    Green PEX7 in Arthrogryposis

    Level 3: Neuromuscular disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.3
    Signed off v.3.2 on 13 Feb 2020

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

    Green PEX7 in Skeletal dysplasia

    Level 3: Skeletal dysplasias
    Level 2: Skeletal disorders
    Version 2.3
    Signed off v.2.2 on 13 Feb 2020

    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 1.413

    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 Inborn errors of metabolism


    Version 2.5
    Signed off v.2.3 on 17 Feb 2020

    Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • 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 1.3
    Signed off v.1.2 on 17 Feb 2020

    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 2.3
    Signed off v.2.2 on 13 Feb 2020

    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 1.368

    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 Genetic epilepsy syndromes

    Level 3: Inherited Epilepsy Syndromes
    Level 2: Neurology and neurodevelopmental disorders
    Version 2.34
    Signed off v.2.2 on 13 Feb 2020

    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

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.24
    Signed off v.3.2 on 13 Feb 2020

    Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • 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 2.8
    Signed off v.2.7 on 25 Feb 2020

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • Eye Disorders
    • Refsum disease

    Red PEX7 in Structural eye disease


    Version 1.5
    Signed off v.1.3 on 4 Mar 2020

    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 NOT PMP22 copy number


    Version 1.4
    Signed off v.1.2 on 27 Feb 2020

    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 or chorea or related movement disorder


    Version 1.4
    Signed off v.1.2 on 25 Feb 2020

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

    Green PEX7 in Severe Paediatric Disorders


    Version 1.1

    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