PLOD1

procollagen-lysine,2-oxoglutarate 5-dioxygenase 1
OMIM: 153454, Gene2Phenotype

11 panels

Panel Reviews Mode of inheritance Details
11 panels

Red PLOD1 in ClinGen_Familial thoracic aortic aneurysm and aortic dissection


Version 0.10

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • ClinGen
Phenotypes
  • Familial thoracic aortic aneurysm and aortic dissection

Green PLOD1 in Thoracic aortic aneurysm and dissection


Version 1.3
Latest signed off version: v1.2 (19 Feb 2020)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • South West GLH
  • London South GLH
  • South West GLH
  • London South GLH
Phenotypes
  • kyphoscoliotic EDS
  • Ehlers-Danlos syndrome, type VI, 225400

Green PLOD1 in Thoracic aortic aneurysm or dissection

Level 3: Connective tissue disorders and aortopathies
Level 2: Cardiovascular disorders
Version 1.112

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • South West GLH
  • London South GLH
  • Expert Review Green
  • Other
Phenotypes
  • Ehlers-Danlos syndrome, type VI, 225400
  • kyphoscoliotic EDS

Green PLOD1 in Arthrogryposis

Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 3.76
Latest signed off version: v3.2 (13 Feb 2020)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Ehlers-Danlos syndrome, type VI 225400

Red PLOD1 in Skeletal dysplasia

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 2.85
Latest signed off version: v2.84 (16 Dec 2021)

Component of the following Super Panels:

  • Paediatric disorders
  • review Not set
    Sources
    • Expert

    Green PLOD1 in Ehlers Danlos syndromes

    Level 3: Connective tissues disorders
    Level 2: Rheumatological disorders
    Version 2.57
    Latest signed off version: v2.3 (4 Mar 2020)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Other
    • Eligibility statement prior genetic testing
    • Expert Review Green
    • Emory Genetics Laboratory
    • Illumina TruGenome Clinical Sequencing Services
    • Expert list
    • UKGTN
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Ehlers-Danlos syndrome, kyphoscoliotic type, 1, OMIM:225400

    Green PLOD1 in Fetal anomalies


    Version 1.638
    Latest signed off version: v1.637 (30 Jun 2021)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • PAGE DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC FORM

    Red PLOD1 in Osteogenesis imperfecta

    Level 3: Skeletal dysplasias
    Level 2: Skeletal disorders
    Version 2.13
    Latest signed off version: v2.2 (13 Feb 2020)

    review Not set
    Sources
    • Expert

    Green PLOD1 in DDG2P


    Version 2.21
    Latest signed off version: v2.2 (13 Feb 2020)

    Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC FORM 225400

    Red PLOD1 in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.1002
    Latest signed off version: v3.1001 (16 Dec 2021)

    Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • BRIDGE study SPEED NEURO Tier1 Gene
    Phenotypes
    • Gene2Phenotype confirmed gene with ID HPO

    Green PLOD1 in Severe Paediatric Disorders


    Version 1.66

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Ehlers-Danlos syndrome, kyphoscoliotic type, 1, 225400