LAMB3

laminin subunit beta 3
OMIM: 150310, Gene2Phenotype

9 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 9 panels
Green LAMB3 in Epidermolysis bullosa Level 2: Dermatological disorders Version 1.15	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Epidermolysis bullosa, junctional, Herlitz type, MIM# 226700 Epidermolysis bullosa, junctional, non-Herlitz type, MIM# 226650
Green LAMB3 in Mendeliome Version 1.1902	review	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Amelogenesis imperfecta, type IA, MIM# 104530 Epidermolysis bullosa, junctional, Herlitz type, MIM# 226700 Epidermolysis bullosa, junctional, non-Herlitz type, MIM# 226650
Green LAMB3 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 LAMB3 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 LAMB3 in Amelogenesis imperfecta Level 2: Skeletal disorders Version 1.10	review	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Amelogenesis imperfecta, type IA, MIM# 104530 Epidermolysis bullosa, junctional, Herlitz type, MIM# 226700 Epidermolysis bullosa, junctional, non-Herlitz type, MIM# 226650
Red LAMB3 in Fetal anomalies Version 1.255	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genomics England PanelApp Phenotypes Epidermolysis bullosa, junctional 226650 Epidermolysis bullosa, junctional 226700
Green LAMB3 in Prepair 1000+ Level 2: Screening Version 1.9	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Epidermolysis bullosa, junctional, Herlitz type, 226700 (3)
Red LAMB3 in BabyScreen+ newborn screening Level 2: Screening Version 1.114	review	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Red BabySeq Category A gene Phenotypes Amelogenesis imperfecta, type IA, MIM# 104530 Epidermolysis bullosa, junctional, Herlitz type, MIM# 226700 Epidermolysis bullosa, junctional, non-Herlitz type, MIM# 226650
Green LAMB3 in Prepair 500+ Level 2: Screening Version 1.1	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Epidermolysis bullosa, junctional, Herlitz type, 226700 (3)