Genes in panel
STRs in panel
Prev Next
Regions in panel
Prev Next

Prepair 500+

Gene: COL7A1

Green List (high evidence)

COL7A1 (collagen type VII alpha 1 chain)
EnsemblGeneIds (GRCh38): ENSG00000114270
EnsemblGeneIds (GRCh37): ENSG00000114270
OMIM: 120120, Gene2Phenotype
COL7A1 is in 9 panels

0 reviews

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Epidermolysis bullosa dystrophica, AR, 226600 (3)
OMIM
120120
Clinvar variants
Variants in COL7A1
Penetrance
None
Panels with this gene

History Filter Activity

3 Nov 2023, Gel status: 3

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

Seb Lunke (Victorian Clinical Genetics Services)

gene: COL7A1 was added gene: COL7A1 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: COL7A1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: COL7A1 were set to Epidermolysis bullosa dystrophica, AR, 226600 (3)