LAMA3

laminin subunit alpha 3
OMIM: 600805, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
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 4.3
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