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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 9 panels

1 review

Kate Scarff (Victorian Clinical Genetics Services)

Green List (high evidence)

Well established gene disease association, nonlethal skin disorder characterized by blistering and erosions at birth or shortly afterward. Blisters may heal with atrophic scarring and variable hypo- or hyperpigmentation. Oral mucosa may be involved. Nails may be lost or dystrophic, and dental enamel defects are present.
A genotype/phenotype correlation was apparent, with the more severe generalized phenotypes associated with truncating mutations (PMID: 21357940).
Created: 4 Sep 2024, 5:08 a.m. | Last Modified: 4 Sep 2024, 5:08 a.m.
Panel Version: 1.248

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Epidermolysis bullosa, junctional 4, intermediate, MIM# 619787

Publications

Created: 4 Sep 2024, 5:08 a.m.
Last Modified: 4 Sep 2024, 5:08 a.m.
Panel version: 1.248

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Epidermolysis bullosa, junctional 4, intermediate, MIM# 619787
OMIM
113811
Clinvar variants
Variants in COL17A1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

4 Sep 2024, Gel status: 3

Entity classified by Genomics England curator

Lilian Downie (Victorian Clinical Genetics Services)

Gene: col17a1 has been classified as Green List (High Evidence).

4 Sep 2024, Gel status: 3

Set Phenotypes

Lilian Downie (Victorian Clinical Genetics Services)

Phenotypes for gene: COL17A1 were changed from Epidermolysis bullosa, junctional, non-Herlitz type, 226650 (3) to Epidermolysis bullosa, junctional 4, intermediate, MIM# 619787

4 Sep 2024, Gel status: 3

Set publications

Lilian Downie (Victorian Clinical Genetics Services)

Publications for gene: COL17A1 were set to

2 Nov 2023, Gel status: 3

Set Phenotypes

Seb Lunke (Victorian Clinical Genetics Services)

Added phenotypes Epidermolysis bullosa, junctional, non-Herlitz type, 226650 (3) for gene: COL17A1

1 Jun 2022, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: COL17A1 was added gene: COL17A1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: COL17A1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: COL17A1 were set to Epidermolysis bullosa, junctional, non-Herlitz type, 226650 (3)