Epidermolysis bullosaGene: LAMB3
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 expert reviewer suggestion and evidence in the literature
Created: 21 Apr 2017, 11:32 a.m.
Comment on publications: Added publications to support gene is involved in the disorder(s) in 3 or more unrelated cases Herlitz form of junctional epidermolysis bullosa PMID:7698759;8824879;9205497 and non-Herlitz type of junctional epidermolysis bullosa PMID:7706760,8824879,9856855
Created: 21 Apr 2017, 9:16 a.m.
Comment on phenotypes: reformatted and added suggestions from reviewer
Created: 21 Apr 2017, 9:05 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 LAMB3 were set to 7698759;8824879;9205497;7706760;8824879;9856855
Phenotypes for LAMB3 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)
LAMB3 was added to Epidermolysis bullosapanel. Source: Illumina TruGenome Clinical Sequencing Services Model of inheritance for gene LAMB3 was set to BIALLELIC, autosomal or pseudoautosomal
LAMB3 was added to Epidermolysis bullosapanel. Source: Radboud University Medical Center, Nijmegen
LAMB3 was created by ellenmcdonagh
LAMB3 was added to Epidermolysis bullosapanel. Sources: Eligibility statement prior genetic testing