LAMA3

laminin subunit alpha 3
OMIM: 600805, Gene2Phenotype

10 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 10 panels
Amber LAMA3 in Congenital Heart Defect Level 2: Cardiovascular disorders Version 0.430	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Ebstein anomaly MONDO:0009144
Green LAMA3 in Epidermolysis bullosa Level 2: Dermatological disorders Version 1.22	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Epidermolysis bullosa, junctional 2A, intermediate MIM#619783 Epidermolysis bullosa, junctional 2B, severe MIM#619784 Epidermolysis bullosa, junctional 2C, laryngoonychocutaneous MIM#245660
Green LAMA3 in Mendeliome Version 1.2374	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Epidermolysis bullosa, junctional 2A, intermediate MIM#619783 Epidermolysis bullosa, junctional 2B, severe MIM#619784 Epidermolysis bullosa, junctional 2C, laryngoonychocutaneous MIM#245660
Green LAMA3 in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 0.109	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Epidermolysis bullosa, junctional, Herlitz type, 226700 (3)
Green LAMA3 in Additional findings_Paediatric Level 2: Screening Version 0.278	review	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Epidermolysis bullosa, junctional
Green LAMA3 in Amelogenesis imperfecta Level 2: Skeletal disorders Version 1.11	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Epidermolysis bullosa, junctional 2A, intermediate MIM#619783 Epidermolysis bullosa, junctional 2B, severe MIM#619784 Epidermolysis bullosa, junctional 2C, laryngoonychocutaneous MIM#245660
Red LAMA3 in Fetal anomalies Version 1.314	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genomics England PanelApp Phenotypes Epidermolysis bullosa, junctional 2A, intermediate MIM#619783 Epidermolysis bullosa, junctional 2B, severe MIM#619784 Epidermolysis bullosa, junctional 2C, laryngoonychocutaneous MIM#245660
Green LAMA3 in Prepair 1000+ Level 2: Screening Version 1.1586	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Epidermolysis bullosa, junctional, Herlitz type, 226700 (3)
Red LAMA3 in BabyScreen+ newborn screening Level 2: Screening Version 1.116	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red BabySeq Category A gene Phenotypes Epidermolysis bullosa, junctional 2B, severe, MIM# 619784
Green LAMA3 in Prepair 500+ Level 2: Screening Version 1.5	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Epidermolysis bullosa, junctional, Herlitz type, 226700 (3)