Epidermolysis bullosa

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 4 panels

2 reviews

John McGrath (King's College London)

Green List (high evidence)

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
dystrophic Epidermolysis bullosa

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Expert review green, and multiple cases reported with different variants.
Created: 12 Oct 2016, 9:44 a.m.

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • Eligibility statement prior genetic testing
Phenotypes
  • Dystrophic Epidermolysis Bullosa
  • Epidermolysis bullosa dystrophica (AD), 131750
  • Epidermolysis bullosa dystrophica (AR), 226600
  • Epidermolysis bullosa, pretibial (AR,AD), 131850
  • EBD, Bart type (AD), 132000
  • EBD inversa (AR), 226600
  • Transient bullous of the newborn (AR,AD), 131705
OMIM
120120
Clinvar variants
Variants in COL7A1
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

25 Apr 2017, Gel status: 4

panel promoted to version 1

Louise Daugherty (Genomics England Curator)

Panel reviews were assessed, and panel was revised according to reviews and further curation.

21 Apr 2017, Gel status: 4

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for COL7A1 were set to Dystrophic Epidermolysis Bullosa; Epidermolysis bullosa dystrophica (AD), 131750; Epidermolysis bullosa dystrophica (AR), 226600; Epidermolysis bullosa, pretibial (AR,AD), 131850; EBD, Bart type (AD), 132000; EBD inversa (AR), 226600; Transient bullous of the newborn (AR,AD), 131705;

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: 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: 2

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for COL7A1 were set to Epidermolysis bullosa dystrophica, AD, 131750; Epidermolysis bullosa dystrophica, AR, 226600;Epidermolysis bullosa, pretibial, 131850; EBD, Bart type, 132000; EBD, localisata variant; Transient bullous of the newborn, 131705; Dystrophic Epidermolysis Bullosa

12 Oct 2016, Gel status: 2

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for COL7A1 were set to 23616197; 24599399; 20055845;19197535;11781296

12 Oct 2016, Gel status: 2

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for COL7A1 was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

28 Oct 2015, Gel status: 2

Set Mode of Inheritance, Added New Source

Ellen McDonagh (Genomics England Curator)

COL7A1 was added to Epidermolysis bullosapanel. Source: Illumina TruGenome Clinical Sequencing Services Model of inheritance for gene COL7A1 was set to BIALLELIC, autosomal or pseudoautosomal

28 Oct 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

COL7A1 was added to Epidermolysis bullosapanel. Source: Radboud University Medical Center, Nijmegen

28 Oct 2015, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

COL7A1 was created by ellenmcdonagh

28 Oct 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

COL7A1 was added to Epidermolysis bullosapanel. Sources: Eligibility statement prior genetic testing