Epidermolysis bullosa

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 2 panels

2 reviews

Louise Daugherty (Genomics England Curator)

Comment on list classification: changed status from green to amber due to expert review/evidence in publications
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
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
19 Apr 2017, 2:07 p.m.
Comment on phenotypes: Added a phenotype due to reviewer comment.
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
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
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • Eligibility statement prior genetic testing
Phenotypes
  • Epidermolysis bullosa, junctional, non-Herlitz type, 226650
  • Junctional Epidermolysis Bullosa
  • Generalised intermediate junctional Epidermolysis bullosa
OMIM
113811
Clinvar variants
Variants in COL17A1
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

25 Apr 2017, Gel status: 4

panel promoted to version 1

Louise Daugherty (Genomics England Curator)

Panel reviews were assessed, and panel was revised according to reviews and further curation.

19 Apr 2017, Gel status: 4

Gene classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

19 Apr 2017, Gel status: 2

Set publications

Louise Daugherty (Genomics England Curator)

Publications for COL17A1 were set to 7550320;9012408;10951237;10577906

19 Apr 2017, Gel status: 2

Set Mode of Inheritance

Louise Daugherty (Genomics England Curator)

Mode of inheritance for COL17A1 was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

19 Apr 2017, Gel status: 2

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for COL17A1 were set to Epidermolysis bullosa, junctional, non-Herlitz type, 226650; Junctional Epidermolysis Bullosa;Generalised intermediate junctional Epidermolysis bullosa

28 Oct 2015, Gel status: 2

Set Mode of Inheritance, Added New Source

Ellen McDonagh (Genomics England Curator)

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

28 Oct 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

COL17A1 was added to Epidermolysis bullosapanel. Source: Radboud University Medical Center, Nijmegen

28 Oct 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

COL17A1 was added to Epidermolysis bullosapanel. Sources: Eligibility statement prior genetic testing

28 Oct 2015, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

COL17A1 was created by ellenmcdonagh