Epidermolysis bullosa and congenital skin fragility

Gene: COL17A1

Green List (high evidence)

COL17A1 (collagen type XVII alpha 1 chain)
EnsemblGeneIds (GRCh38): ENSG00000065618
EnsemblGeneIds (GRCh37): ENSG00000065618
OMIM: 113811, Gene2Phenotype
COL17A1 is in 5 panels

3 reviews

Ivone Leong (Genomics England Curator)

Comment on phenotypes: Previous phenotypes:
Generalised intermediate junctional Epidermolysis bullosa;Epidermolysis bullosa, junctional, non-Herlitz type, 226650;Junctional Epidermolysis Bullosa
Created: 24 Mar 2021, 11:04 a.m. | Last Modified: 24 Mar 2021, 11:04 a.m.
Panel Version: 1.10

Louise Daugherty (Genomics England Curator)

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.

John McGrath (King's College London)

Green List (high evidence)

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

Phenotypes
generalised intermediate junctional Epidermolysis bullosa

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Epidermolysis bullosa, junctional, localisata variant, OMIM:226650
  • Epidermolysis bullosa, junctional, non-Herlitz type, OMIM:226650
OMIM
113811
Clinvar variants
Variants in COL17A1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

24 Mar 2021, Gel status: 3

Set Phenotypes

Ivone Leong (Genomics England Curator)

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

3 Jan 2019, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

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