LAMA3

laminin subunit alpha 3
OMIM: 600805, Gene2Phenotype

5 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 5 panels
Green LAMA3 in Epidermolysis bullosa Level 3: Skin fragility disorders Level 2: Dermatological disorders Version 1.11	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Illumina TruGenome Clinical Sequencing Services Eligibility statement prior genetic testing Phenotypes Epidermolysis bullosa, generalized atrophic benign, 226650 Epidermolysis bullosa, junctional, non-Herlitz type Epidermolysis bullosa, junctional, Herlitz type, 226700 Severe generalised junctional Epidermolysis bullosa (occasionally intermediate) Laryngoonychocutaneous syndrome, 245660 Laryngo-onhycho-cutaneous syndrome associated with LAMA3A isoform Shabbir syndrome Junctional Epidermolysis Bullosa
Green LAMA3 in Epidermolysis bullosa and congenital skin fragility Version 2.7 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, generalized atrophic benign, OMIM:226650 Laryngoonychocutaneous syndrome, OMIM:245660
Green LAMA3 in Amelogenesis imperfecta Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 3.3 Latest signed off version: v3.0 (22 Mar 2023)	review	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green UKGTN Eligibility statement prior genetic testing Phenotypes Amelogenesis imperfecta, hypoplastic type Epidermolysis bullosa, generalized atrophic benign 226650 Epidermolysis bullosa, junctional, Herlitz type 226700 Laryngoonychocutaneous syndrome 245660 Tags monogenic-polygenic
Red LAMA3 in Fetal anomalies Version 4.1 Latest signed off version: v4.0 (1 May 2024)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red PAGE Additional Gene List Phenotypes Epidermolysis bullosa, junctional 226700
Green LAMA3 in Severe Paediatric Disorders Version 1.184	review	BIALLELIC, autosomal or pseudoautosomal	Sources Next Generation Children Project Expert Review Green Expert list Phenotypes Epidermolysis bullosa, junctional, Herlitz type, 226700 Epidermolysis bullosa, generalized atrophic benign, 226650 Laryngoonychocutaneous syndrome, 245660