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  2. Epidermolysis bullosa
  3. COL17A1
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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 9 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Epidermolysis bullosa, junctional, localisata variant, MIM# 226650; Epidermolysis bullosa, junctional, non-Herlitz type, MIM# 226650; Epithelial recurrent erosion dystrophy, MIM# 122400

Created: 11 Aug 2020, 2:13 a.m.
Last Modified: 11 Aug 2020, 2:13 a.m.
Panel version: 0.42

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Epidermolysis bullosa, junctional, localisata variant, MIM# 226650
  • Epidermolysis bullosa, junctional, non-Herlitz type, MIM# 226650
  • Epithelial recurrent erosion dystrophy, MIM# 122400
OMIM
113811
Clinvar variants
Variants in COL17A1
Penetrance
None
Panels with this gene

History Filter Activity

11 Aug 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

11 Aug 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: COL17A1 were changed from to Epidermolysis bullosa, junctional, localisata variant, MIM# 226650; Epidermolysis bullosa, junctional, non-Herlitz type, MIM# 226650; Epithelial recurrent erosion dystrophy, MIM# 122400

11 Aug 2020, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: COL17A1 was added gene: COL17A1 was added to Epidermolysis bullosa_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: COL17A1 was set to Unknown