Infantile enterocolitis & monogenic inflammatory bowel disease

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 5 panels

3 reviews

Zornitza Stark (Australian Genomics)

Red List (low evidence)

This gene is suggested as an IBD gene in the review by Uhlig et al (25058236) based on the link with EB dystrophica. 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, 5:48 a.m. | Last Modified: 10 Apr 2020, 5:48 a.m.
Panel Version: 1.16

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Epidermolysis bullosa dystrophica, AR, MIM# 226600

Publications

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Promoted from red to green due to expert review. Strong evidence for its role in Dystrophic epidermolysis bullosa, of which the recessive form includes features of inflammatory bowel disease.
Created: 12 Oct 2016, 9:54 a.m.
Comment on mode of inheritance: The more severe (autosomal recessive) form of Dystrophic epidermolysis bullosa includes gastrointestinal clinical features such as esophageal blisters, esophageal strictures, dysphagia, anal blisters and constipation.
Created: 12 Oct 2016, 9:52 a.m.

Neil shah (GOSH)

Green List (high evidence)

Details

Mode of Inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Dystrophic epidermolysis bullosa
OMIM
120120
Clinvar variants
Variants in COL7A1
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

14 Oct 2016, Gel status: 4

panel promoted to version 1

Ellen McDonagh (Genomics England Curator)

14th Oct 2016: panel revised according to expert review, additional curation for evidence level and internal clinical review, and promoted to version 1.

13 Oct 2016, Gel status: 4

Set Mode of Inheritance

Richard Scott (Genomics England Curator)

Mode of inheritance for COL7A1 was changed to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal

12 Oct 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

12 Oct 2016, Gel status: 0

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for COL7A1 was changed to BIALLELIC, autosomal or pseudoautosomal

12 Oct 2016, Gel status: 0

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for COL7A1 were set to 27537055; 11781296

12 Oct 2016, Gel status: 0

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for COL7A1 were set to 27537055;11781296

10 May 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

COL7A1 was created by ellenmcdonagh

10 May 2016, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

COL7A1 was added to Infantile enterocolitis & monogenic inflammatory bowel diseasepanel. Sources: Expert list