ELN

elastin
OMIM: 130160, Gene2Phenotype

10 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 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