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 1.6

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 1.49
Latest signed off version: v1.3 (15 Oct 2020)

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 2.14
Latest signed off version: v2.2 (13 Feb 2020)

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 1.717
Latest signed off version: v1.92 (21 Aug 2020)

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 1.84

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