LAMC2

laminin subunit gamma 2
OMIM: 150292, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels
Green LAMC2 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 LAMC2 in Epidermolysis bullosa and congenital skin fragility


Level 2: Dermatology
Version 2.17
Latest signed off version: v2.16 (12 Aug 2026)

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
Amber LAMC2 in Amelogenesis imperfecta


Level 2: Musculoskeletal
Version 4.38
Latest signed off version: v4.37 (12 Aug 2026)

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • UKGTN
  • Eligibility statement prior genetic testing
Phenotypes
  • amelogenesis imperfecta, MONDO:0019507
Tags
  • watchlist
Red LAMC2 in Fetal anomalies


Level 2: Fetal (including NIPD)
Version 8.1
Latest signed off version: v8.0 (12 Aug 2026)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • PAGE Additional Gene List
Phenotypes
  • Epidermolysis bullosa, junctional 226700
  • Epidermolysis bullosa, junctional 226650