Inflammatory bowel disease
Gene: COL7A1

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

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

EB dystrophica has GI manifestations, but these are primarily mucosal blistering and development of strictures, I am not convinced it truly overlaps IBD and diagnosis would be guided by the dermatological presentation. Single canonical splice site variant reported in an individual with IBD in PMID 27537055, no skin features and unclear whether causative/contributory or incidental carrier finding.
Created: 10 Apr 2020, 5:43 a.m. | Last Modified: 10 Apr 2020, 5:43 a.m.

Panel Version: 0.13

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Epidermolysis bullosa dystrophica, AR, MIM# 226600

Publications

Created: 10 Apr 2020, 5:43 a.m.
Last Modified: 10 Apr 2020, 5:43 a.m.
Panel version: 0.13

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Red
Victorian Clinical Genetics Services

Phenotypes

Epidermolysis bullosa dystrophica, AR, MIM# 226600

OMIM

120120

Clinvar variants

Variants in COL7A1

Penetrance

None

Publications

Panels with this gene