LAMC2

laminin subunit gamma 2
OMIM: 150292, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Green LAMC2 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
  • 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


Version 1.3
Signed off v.1.2 on 19 Feb 2020

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Epidermolysis bullosa, junctional, Herlitz type, 226700
  • Epidermolysis bullosa, junctional, non-Herlitz type, 226650
  • Junctional Epidermolysis Bullosa
  • Severe generalised junctional Epidermolysis bullosa (occasionally intermediate)

Amber LAMC2 in Amelogenesis imperfecta

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 2.5
Signed off v.2.2 on 13 Feb 2020

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • UKGTN
  • Eligibility statement prior genetic testing
Phenotypes
  • Amelogenesis Imperfecta
  • Epidermolysis bullosa, junctional, Herlitz type, 226700
  • Epidermolysis bullosa, junctional, non-Herlitz type, 226650
Tags
  • watchlist

Red LAMC2 in Fetal anomalies


Version 1.73
Signed off v.1.2 on 17 Feb 2020

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

Green LAMC2 in Severe Paediatric Disorders


Version 1.6

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Next Generation Children Project
  • Expert Review Green
  • Expert list
Phenotypes
  • Epidermolysis bullosa, junctional, Herlitz type, 226700
  • Epidermolysis bullosa, junctional, non-Herlitz type, 226650