ELN

elastin
OMIM: 130160, Gene2Phenotype

10 panels

Panel Reviews Mode of inheritance Details
10 panels

Green ELN in Aortopathy_Connective Tissue Disorders


Level 2: Cardiovascular disorders
Version 1.87

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Other
Phenotypes
  • Cutis laxa 123700
  • Supravalvar aortic stenosis 185500

Green ELN in Congenital Heart Defect


Level 2: Cardiovascular disorders
Version 0.430

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Supravalvar aortic stenosis, MIM# 185500

Green ELN in Interstitial Lung Disease


Level 2: Respiratory disorders
Version 1.0

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Cutis laxa, autosomal dominant, MIM# 123700

Green ELN in Mendeliome


Version 1.2374

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • cutis laxa, autosomal dominant 1 MONDO:0007411
  • supravalvular aortic stenosis MONDO:0008504

Green ELN in Pulmonary Fibrosis_Interstitial Lung Disease


Level 2: Respiratory disorders
Version 0.87

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Cutis laxa, autosomal dominant, MIM# 123700

Green ELN in Cutis Laxa


Level 2: Dermatological disorders
Version 1.0

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Other
  • GeneReviews
Phenotypes
  • Cutis laxa, autosomal dominant MIM#123700

Green ELN in Additional findings_Paediatric


Level 2: Screening
Version 0.278

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Supravalvar aortic stenosis

Green ELN in Fetal anomalies


Version 1.314

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • Cutis laxa 123700
  • Supravalvar aortic stenosis 185500

Red ELN in BabyScreen+ newborn screening


Level 2: Screening
Version 1.116

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • BabySeq Category A gene
Phenotypes
  • cutis laxa, autosomal dominant 1 MONDO:0007411
  • supravalvular aortic stenosis MONDO:0008504

Red ELN in Pneumothorax

Level 3: Structural lung disorders
Level 2: Respiratory disorders
Version 1.0

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Other
Phenotypes
  • cutis laxa, autosomal dominant 1 MONDO:0007411