Epidermolysis bullosa and congenital skin fragility
Gene: COL17A1Comment on phenotypes: Previous phenotypes:
Generalised intermediate junctional Epidermolysis bullosa;Epidermolysis bullosa, junctional, non-Herlitz type, 226650;Junctional Epidermolysis BullosaCreated: 24 Mar 2021, 11:04 a.m. | Last Modified: 24 Mar 2021, 11:04 a.m.
Panel Version: 1.10
Comment on list classification: changed status from green to amber due to expert review/evidence in publicationsCreated: 19 Apr 2017, 2:18 p.m.
Comment on publications: Added publications to support number of unrelated cases to date with Epidermolysis bullosa caused by variants in COL17A1Created: 19 Apr 2017, 2:17 p.m.
Comment on mode of inheritance: amended MOI due to reviewer comment that although mostly AR - generalised intermediate junctional EB - very rare AD casesCreated: 19 Apr 2017, 2:07 p.m.
Comment on phenotypes: Added a phenotype due to reviewer comment.Created: 19 Apr 2017, 2:06 p.m.
mostly AR - generalised intermediate junctional EB - very rare AD casesCreated: 19 Nov 2015, 3:43 p.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
generalised intermediate junctional Epidermolysis bullosa
Phenotypes for gene: COL17A1 were changed from Epidermolysis bullosa, junctional, localisata variant, OMIM:226650; Epidermolysis bullosa, junctional, non-Herlitz type, OMIM:226650 to Epidermolysis bullosa, junctional 4, intermediate, OMIM:619787
Phenotypes for gene: COL17A1 were changed from Generalised intermediate junctional Epidermolysis bullosa; Epidermolysis bullosa, junctional, non-Herlitz type, 226650; Junctional Epidermolysis Bullosa to Epidermolysis bullosa, junctional, localisata variant, OMIM:226650; Epidermolysis bullosa, junctional, non-Herlitz type, OMIM:226650
gene: COL17A1 was added gene: COL17A1 was added to Epidermolysis bullosa and congenital skin fragility. Sources: Expert Review Green Mode of inheritance for gene: COL17A1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: COL17A1 were set to 7550320; 9012408; 10577906; 10951237 Phenotypes for gene: COL17A1 were set to Generalised intermediate junctional Epidermolysis bullosa; Epidermolysis bullosa, junctional, non-Herlitz type, 226650; Junctional Epidermolysis Bullosa