Epidermolysis bullosaGene: LAMC2
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
severe generalised junctional Epidermolysis bullosa (occasionally intermediate)
Comment on list classification: changed status from amber to green based on reviewer suggestion and evidence in the literature
Created: 21 Apr 2017, 11:31 a.m.
Comment on publications: Added publications to support gene is involved in the disorder(s) in 3 or more unrelated cases : Herlitz junctional epidermolysis bullosa PMID:8012393, 8012394,10951251,11810295 and non-Herlitz junctional epidermolysis bullosa PMID:11564184,20336083 (mouse model),11907499,16473856
Created: 21 Apr 2017, 9:56 a.m.
Comment on phenotypes: reformatted and added suggestions from expert reviewer
Created: 21 Apr 2017, 9:31 a.m.
Panel reviews were assessed, and panel was revised according to reviews and further curation.
This gene has been classified as Green List (High Evidence).
Publications for LAMC2 were set to 8012393;8012394;10951251;11810295;11564184;20336083;11907499;16473856
Phenotypes for LAMC2 were set to Epidermolysis bullosa, junctional, Herlitz type, 226700; Epidermolysis bullosa, junctional, non-Herlitz type, 226650; Junctional Epidermolysis Bullosa; Severe generalised junctional Epidermolysis bullosa (occasionally intermediate)
LAMC2 was added to Epidermolysis bullosapanel. Source: Illumina TruGenome Clinical Sequencing Services Model of inheritance for gene LAMC2 was set to BIALLELIC, autosomal or pseudoautosomal
LAMC2 was added to Epidermolysis bullosapanel. Source: Radboud University Medical Center, Nijmegen
LAMC2 was added to Epidermolysis bullosapanel. Sources: Eligibility statement prior genetic testing
LAMC2 was created by ellenmcdonagh