Epidermolysis bullosa and congenital skin fragility
Gene: LAMB3Comment on phenotypes: Previous phenotypes:
Epidermolysis bullosa, junctional, Herlitz type, 226700;Epidermolysis bullosa, junctional, non-Herlitz type, 226650;Junctional Epidermolysis Bullosa;Severe generalised junctional Epidermolysis bullosa (occasionally intermediate)Created: 24 Mar 2021, 1:10 p.m. | Last Modified: 24 Mar 2021, 1:10 p.m.
Panel Version: 1.32
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
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 literatureCreated: 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:7706760,8824879,9856855Created: 21 Apr 2017, 9:16 a.m.
Comment on phenotypes: reformatted and added suggestions from reviewerCreated: 21 Apr 2017, 9:05 a.m.
Phenotypes for gene: LAMB3 were changed from Epidermolysis bullosa, junctional, Herlitz type, 226700; Epidermolysis bullosa, junctional, non-Herlitz type, 226650; Junctional Epidermolysis Bullosa; Severe generalised junctional Epidermolysis bullosa (occasionally intermediate) to Epidermolysis bullosa, junctional, Herlitz type, OMIM:226700; Epidermolysis bullosa, junctional, non-Herlitz type, OMIM:226650
gene: LAMB3 was added gene: LAMB3 was added to Epidermolysis bullosa and congenital skin fragility. Sources: Expert Review Green Mode of inheritance for gene: LAMB3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LAMB3 were set to 7706760; 7698759; 8824879; 9205497; 9856855 Phenotypes for gene: 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)