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Primary immunodeficiency

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

2 reviews

Ivone Leong (Genomics England Curator)

Comment on list classification: New gene added by Kelsey Jones (Great Ormond Street Hospital). This gene is associated with a phenotype in OMIM and Gene2Phenotype. This gene has been given an Amber rating.
Created: 1 Feb 2021, 1:16 p.m. | Last Modified: 1 Feb 2021, 1:16 p.m.
Panel Version: 2.394

Kelsey Jones (Great Ormond Street Hospital)

I don't know

Important monogenic cause of VEOIBD (recognised criteria for the R15 panel). In a retrospective case series, 9 of 57 (16%) children with recessive DEBP had diarrhoea with macroscopic/microscopic features of colitis (PMID: 18363753). There is additionally a recognised association between Epidermolysis Bullosa Acquisita (an autoimmune condition directed against Type VII Collagen (the COL7A1 protein product) (PMID: 23517353). Included on a monogenic IBD gene panel proposed by The Paediatric IBD Porto Group of ESPGHAN (PMID: 33346580). Not a recognised cause of immunodeficiency.
Sources: Expert Review
Created: 29 Jan 2021, 3:37 p.m. | Last Modified: 29 Jan 2021, 3:43 p.m.
Panel Version: 2.392

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Very Early Onset Inflammatory Bowel Disease; Dystrophic Epidermolysis Bullosa Pruriginosa

Publications

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Very Early Onset Inflammatory Bowel Disease
  • Dystrophic Epidermolysis Bullosa Pruriginosa
OMIM
120120
Clinvar variants
Variants in COL7A1
Penetrance
Incomplete
Publications
Panels with this gene

History Filter Activity

1 Feb 2021, Gel status: 2

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

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

1 Feb 2021, Gel status: 0

Set publications

Ivone Leong (Genomics England Curator)

Publications for gene: COL7A1 were set to PMID: 18363753

29 Jan 2021, Gel status: 0

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

Kelsey Jones (Great Ormond Street Hospital)

gene: COL7A1 was added gene: COL7A1 was added to Primary immunodeficiency. Sources: Expert Review Mode of inheritance for gene: COL7A1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: COL7A1 were set to PMID: 18363753 Phenotypes for gene: COL7A1 were set to Very Early Onset Inflammatory Bowel Disease; Dystrophic Epidermolysis Bullosa Pruriginosa Penetrance for gene: COL7A1 were set to Incomplete Review for gene: COL7A1 was set to AMBER