Epidermolysis bullosaGene: COL17A1
Comment on list classification: changed status from green to amber due to expert review/evidence in publications
Created: 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 COL17A1
Created: 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 cases
Created: 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 cases
Created: 19 Nov 2015, 3:43 p.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
generalised intermediate junctional Epidermolysis bullosa
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 COL17A1 were set to 7550320;9012408;10951237;10577906
Mode of inheritance for COL17A1 was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for COL17A1 were set to Epidermolysis bullosa, junctional, non-Herlitz type, 226650; Junctional Epidermolysis Bullosa;Generalised intermediate junctional Epidermolysis bullosa
COL17A1 was added to Epidermolysis bullosapanel. Source: Illumina TruGenome Clinical Sequencing Services Model of inheritance for gene COL17A1 was set to BIALLELIC, autosomal or pseudoautosomal
COL17A1 was added to Epidermolysis bullosapanel. Source: Radboud University Medical Center, Nijmegen
COL17A1 was added to Epidermolysis bullosapanel. Sources: Eligibility statement prior genetic testing
COL17A1 was created by ellenmcdonagh