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  2. Corneal dystrophy
  3. COL17A1
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Corneal dystrophy

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 4 panels

1 review

Morag Shanks (Oxford Medical Genetics laboratory)

Green List (high evidence)

Publications

Created: 1 Apr 2019, 2:30 p.m.

Panel version: 0.3

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Wessex and West Midlands GLH
Phenotypes
  • Epithelial recurrent erosion dystrophy, OMIM:122400
OMIM
113811
Clinvar variants
Variants in COL17A1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

19 Apr 2022, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: COL17A1 were changed from Epithelial recurrent erosion dystrophy 122400 to Epithelial recurrent erosion dystrophy, OMIM:122400

1 Apr 2019, Gel status: 4

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

Ivone Leong (Genomics England Curator)

gene: COL17A1 was added gene: COL17A1 was added to Corneal dystrophies. Sources: Wessex and West Midlands GLH,Expert Review Green Mode of inheritance for gene: COL17A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: COL17A1 were set to 25564336; 19710953; 14562173 Phenotypes for gene: COL17A1 were set to Epithelial recurrent erosion dystrophy 122400