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Amelogenesis imperfecta

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)

19 unrelated individuals reported with het variants in this gene (several LoF) and isolated amelogenesis imperfecta.
Created: 7 Dec 2023, 1:18 a.m. | Last Modified: 7 Dec 2023, 1:18 a.m.
Panel Version: 1.5
This type of EB has prominent dental involvement, including enamel pitting.
Created: 12 Aug 2021, 1:26 a.m. | Last Modified: 12 Aug 2021, 1:26 a.m.
Panel Version: 0.12

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Epidermolysis bullosa, junctional, non-Herlitz type, MIM# 226650; Amelogenesis imperfecta MONDO:0019507, COL17A1-related

Publications

Created: 12 Aug 2021, 1:26 a.m.
Last Modified: 12 Aug 2021, 1:26 a.m.
Panel version: 1.5

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • Epidermolysis bullosa, junctional, non-Herlitz type, MIM#226650 (includes enamel pitting)
  • Amelogenesis imperfecta MONDO:0019507, COL17A1-related
OMIM
113811
Clinvar variants
Variants in COL17A1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

7 Dec 2023, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: COL17A1 were changed from Epidermolysis bullosa, junctional, non-Herlitz type, MIM#226650 (includes enamel pitting); hypoplastic amelogenesis imperfecta to Epidermolysis bullosa, junctional, non-Herlitz type, MIM#226650 (includes enamel pitting); Amelogenesis imperfecta MONDO:0019507, COL17A1-related

7 Dec 2023, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

12 Aug 2021, 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).

12 Aug 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: COL17A1 were changed from Epidermolysis bullosa, junctional, non-Herlitz type, MIM#226650 (includes enamel pitting); Amelogenesis Imperfecta; hypoplastic amelogenesis imperfecta to Epidermolysis bullosa, junctional, non-Herlitz type, MIM#226650 (includes enamel pitting); hypoplastic amelogenesis imperfecta

12 Aug 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: COL17A1 were changed from non-Herlitz junctional epidermolysis bullosa (nH-JEB) and amelogenesis imperfecta; Epidermolysis bullosa, junctional, non-Herlitz type, 226650 (includes enamel pitting); Amelogenesis Imperfecta; hypoplastic amelogenesis imperfecta to Epidermolysis bullosa, junctional, non-Herlitz type, MIM#226650 (includes enamel pitting); Amelogenesis Imperfecta; hypoplastic amelogenesis imperfecta

12 Aug 2021, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

7 May 2021, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: COL17A1 was added gene: COL17A1 was added to Amelogenesis imperfecta. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: COL17A1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: COL17A1 were set to 26502894; 27558265; 8669466; 16820943 Phenotypes for gene: COL17A1 were set to non-Herlitz junctional epidermolysis bullosa (nH-JEB) and amelogenesis imperfecta; Epidermolysis bullosa, junctional, non-Herlitz type, 226650 (includes enamel pitting); Amelogenesis Imperfecta; hypoplastic amelogenesis imperfecta