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 1.22	1 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 1.3512	1 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 0.110	0 reviews	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	0 reviews	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 1.12	1 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 1.465	2 reviews	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 2.14	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Epidermolysis bullosa, junctional 1A, intermediate MIM#226650 Epidermolysis bullosa, junctional 1B, severe MIM#226700
Red LAMB3 in Genomic newborn screening: BabyScreen+ Level 2: Screening Version 1.140	2 reviews	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 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Epidermolysis bullosa, junctional 1A, intermediate MIM#226650 Epidermolysis bullosa, junctional 1B, severe MIM#226700