LAMB3

laminin subunit beta 3
OMIM: 150310, Gene2Phenotype

4 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 4 panels
Green LAMB3 in Epidermolysis bullosa Level 3: Skin fragility disorders Level 2: Dermatological disorders Version 1.12	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Eligibility statement prior genetic testing Phenotypes Epidermolysis bullosa, junctional, Herlitz type, 226700 Epidermolysis bullosa, junctional, non-Herlitz type, 226650 Junctional Epidermolysis Bullosa Severe generalised junctional Epidermolysis bullosa (occasionally intermediate)
Green LAMB3 in Epidermolysis bullosa and congenital skin fragility Level 2: Dermatology Version 2.13 Latest signed off version: v2.2 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Epidermolysis bullosa, junctional, Herlitz type, OMIM:226700 Epidermolysis bullosa, junctional, non-Herlitz type, OMIM:226650
Green LAMB3 in Amelogenesis imperfecta Level 2: Musculoskeletal Version 4.30 Latest signed off version: v4.0 (30 Apr 2025)	review	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green UKGTN Radboud University Medical Center, Nijmegen Eligibility statement prior genetic testing Phenotypes Amelogenesis imperfecta, type IA, 104530 Amelogenesis Imperfecta, Type IA, 104530 Epidermolysis bullosa, junctional, Herlitz type, 26700 Epidermolysis bullosa, junctional, non-Herlitz type, 226650
Red LAMB3 in Fetal anomalies Level 2: Fetal (including NIPD) Version 6.140 Latest signed off version: v6.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red PAGE Additional Gene List Phenotypes Epidermolysis bullosa, junctional 226700 Epidermolysis bullosa, junctional 226650