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 1.85	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 0.418	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 1.1902	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 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
Red ELN in Cerebral vascular malformations Level 2: Neurology and neurodevelopmental disorders Version 0.39 Component of the following Super Panels: Progressive Neurological Conditions	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Genomics England PanelApp Expert Review Red Phenotypes Moyamoya disease Aneurysm, intracranial berry, 1 105800
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 1.255	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 1.114	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red BabySeq Category A gene Phenotypes supravalvular aortic stenosis MONDO:0008504 cutis laxa, autosomal dominant 1 MONDO:0007411
Red ELN in Pneumothorax Level 3: Structural lung disorders Level 2: Respiratory disorders Version 0.11	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Other Phenotypes cutis laxa, autosomal dominant 1 MONDO:0007411