Epidermolysis bullosa
Gene: COL17A1EnsemblGeneIds (GRCh38): ENSG00000065618
EnsemblGeneIds (GRCh37): ENSG00000065618
OMIM: 113811, Gene2Phenotype
COL17A1 is in 4 panels
2 reviews
Louise Daugherty (Genomics England Curator)
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.
John McGrath (King's College London)
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
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 4, intermediate, OMIM:619787
- OMIM
- 113811
- Clinvar variants
- Variants in COL17A1
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: COL17A1 were changed from Epidermolysis bullosa, junctional, non-Herlitz type, 226650; Junctional Epidermolysis Bullosa; Generalised intermediate junctional Epidermolysis bullosa to Epidermolysis bullosa, junctional 4, intermediate, OMIM:619787
panel promoted to version 1
Louise Daugherty (Genomics England Curator)Panel reviews were assessed, and panel was revised according to reviews and further curation.
Gene classified by Genomics England curator
Louise Daugherty (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set publications
Louise Daugherty (Genomics England Curator)Publications for COL17A1 were set to 7550320;9012408;10951237;10577906
Set Mode of Inheritance
Louise Daugherty (Genomics England Curator)Mode of inheritance for COL17A1 was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
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
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
Added New Source
Ellen McDonagh (Genomics England Curator)COL17A1 was added to Epidermolysis bullosapanel. Source: Radboud University Medical Center, Nijmegen
Added New Source
Ellen McDonagh (Genomics England Curator)COL17A1 was added to Epidermolysis bullosapanel. Sources: Eligibility statement prior genetic testing
Created
Ellen McDonagh (Genomics England Curator)COL17A1 was created by ellenmcdonagh