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Primary immunodeficiency

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 6 panels

4 reviews

Arina Puzriakova (Genomics England Curator)

Green List (high evidence)

This gene has been confirmed for this panel by the NHS Genomic Medicine Service as the eligibility criteria of R15 has been extended to include IBD genes and should be rated green.
Created: 8 Mar 2022, 3:09 p.m. | Last Modified: 8 Mar 2022, 3:09 p.m.
Panel Version: 2.536

Sophie Hambleton (Newcastle University)

I don't know

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
epidermolysis bullosa; bloody diarrhoea

Publications

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
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Very Early Onset Inflammatory Bowel Disease
  • Inflammatory Bowel Disease
  • Dystrophic Epidermolysis Bullosa Pruriginosa
OMIM
120120
Clinvar variants
Variants in COL7A1
Penetrance
Incomplete
Publications
Panels with this gene

History Filter Activity

8 Mar 2022, Gel status: 3

Added New Source, Set mode of inheritance, Set Phenotypes, Set publications, Status Update

Arina Puzriakova (Genomics England Curator)

Source Expert Review Green was added to COL7A1. Mode of inheritance for gene COL7A1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Inflammatory Bowel Disease for gene: COL7A1 Publications for gene: COL7A1 were updated from 18363753; 23517353; 32084423; 33346580 to 32084423; 33346580; 23517353; 11781296; 18363753; 27537055 Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

2 Nov 2021, Gel status: 2

Set publications

Arina Puzriakova (Genomics England Curator)

Publications for gene: COL7A1 were set to 18363753; 23517353; 33346580

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