Gastrointestinal epithelial barrier disorders

Gene: COL7A1

Amber List (moderate evidence)

COL7A1 (collagen type VII alpha 1 chain)
EnsemblGeneIds (GRCh38): ENSG00000114270
EnsemblGeneIds (GRCh37): ENSG00000114270
OMIM: 120120, Gene2Phenotype
COL7A1 is in 6 panels

3 reviews

Olivia Niblock (Genomics England Curator)

Comment on list classification: Internal review from the Genomics England clinical team has advised this gene be made amber, as although there is evidence for gastrointestinal phenotypes in patients who are homozygous for variants in this gene, the skin phenotype more commonly associated with Epidermolysis bullosa is severe and would likely be picked up elsewhere.
Created: 25 Jul 2018, 1:17 p.m.

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)


Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
  • Expert Review Amber
  • Expert list
  • Dystrophic epidermolysis bullosa
Clinvar variants
Variants in COL7A1
Panels with this gene

History Filter Activity

2 Nov 2021, Gel status: 2

Set publications

Arina Puzriakova (Genomics England Curator)

Publications for gene: COL7A1 were set to

25 Jul 2018, Gel status: 2

Panel promoted to version 1.0

Olivia Niblock (Genomics England Curator)

Panel reviews have been assessed and internal clinical team opinion has been sought on this panel, particularly to rule out incidental findings. Panel has been revised through expert review, internal review and literature research. 25/07/2018

25 Jul 2018, Gel status: 2

Entity classified by Genomics England curator

Olivia Niblock (Genomics England Curator)

Gene: col7a1 has been classified as Amber List (Moderate Evidence).

25 Jul 2018, Gel status: 1

Set mode of inheritance, Set penetrance

Olivia Niblock (Genomics England Curator)

Model of inheritance for gene COL7A1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene COL7A1 were set to Dystrophic epidermolysis bullosa

17 Apr 2018, Gel status: 1

Added New Source

Olivia Niblock (Genomics England Curator)

COL7A1 was added to Gastrointestinal epithelial barrier disorders panel. Sources: Expert list

17 Apr 2018, Gel status: 1


Olivia Niblock (Genomics England Curator)

COL7A1 was created by Olivia Niblock