PLOD3

procollagen-lysine,2-oxoglutarate 5-dioxygenase 3
OMIM: 603066, Gene2Phenotype

7 panels

Panel Reviews Mode of inheritance Details
7 panels

Red PLOD3 in ClinGen_Familial thoracic aortic aneurysm and aortic dissection


Version 0.11

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

Amber PLOD3 in Epidermolysis bullosa and congenital skin fragility


Version 1.53
Latest signed off version: v1.3 (15 Oct 2020)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber

Green PLOD3 in Cataracts

Level 3: Anterior segment abnormalities
Level 2: Ophthalmological disorders
Version 2.110
Latest signed off version: v2.76 (5 Aug 2021)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Lysyl hydroxylase 3 deficiency, MIM#612394

Red PLOD3 in Ehlers Danlos syndromes

Level 3: Connective tissues disorders
Level 2: Rheumatological disorders
Version 2.65
Latest signed off version: v2.3 (4 Mar 2020)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
Phenotypes
  • Lysyl hydroxylase 3 deficiency, 612394

Amber PLOD3 in Fetal anomalies


Version 1.905
Latest signed off version: v1.92 (21 Aug 2020)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert Review
  • Literature
Phenotypes
  • Lysyl hydroxylase 3 deficiency, OMIM:612394
  • IUGR
  • Contractures

Red PLOD3 in DDG2P


Version 2.78
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 Red
    Phenotypes
    • LYSYL HYDROXYLASE 3 DEFICIENCY 612394

    Red PLOD3 in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.1677
    Latest signed off version: v3.2 (13 Feb 2020)

    Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    Phenotypes
    • Lysyl hydroxylase 3 deficiency, 612394