LOX

lysyl oxidase
OMIM: 153455, Gene2Phenotype

6 panels

Panel Reviews Mode of inheritance Details
6 panels
Green LOX in ClinGen_Familial thoracic aortic aneurysm and aortic dissection


Version 0.11

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • ClinGen
Phenotypes
  • Familial thoracic aortic aneurysm and aortic dissection
Red LOX in Pneumothorax - familial

Level 3: Structural lung disorders
Level 2: Respiratory disorders
Version 3.5
Latest signed off version: v3.0 (22 Mar 2023)

review Not set
Sources
  • NHS GMS
Green LOX in Thoracic aortic aneurysm or dissection (GMS)


Version 3.11
Latest signed off version: v3.0 (22 Mar 2023)

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • NHS GMS
  • Expert Review Green
  • South West GLH
  • London South GLH
  • South West GLH
  • London South GLH
Phenotypes
  • Aortic aneurysm, familial thoracic 10, 617168
  • aortic aneurysm
Green LOX in Thoracic aortic aneurysm or dissection

Level 3: Connective tissue disorders and aortopathies
Level 2: Cardiovascular disorders
Version 1.127

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • South West GLH
  • London South GLH
  • Expert Review Green
  • Literature
Phenotypes
  • aortic aneurysm
  • Aortic aneurysm, familial thoracic 10, 617168
Green LOX in Ehlers Danlos syndrome with a likely monogenic cause

Level 3: Connective tissues disorders
Level 2: Rheumatological disorders
Version 3.12
Latest signed off version: v3.0 (22 Mar 2023)

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • NHS GMS
  • Expert Review Green
  • Expert Review
  • Other
Phenotypes
  • Aortic aneurysm, familial thoracic 10, OMIM:617168
Amber LOX in Fetal anomalies


Version 4.1
Latest signed off version: v4.0 (1 May 2024)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
  • Expert Review
Phenotypes
  • Aortopathy