Epidermolysis bullosa
Gene: COL7A1

COL7A1 (collagen type VII alpha 1 chain)
EnsemblGeneIds (GRCh38): ENSG00000114270
EnsemblGeneIds (GRCh37): ENSG00000114270
OMIM: 120120, Gene2Phenotype
COL7A1 is in 5 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

Created: 5 Nov 2017, 2:41 a.m.

Panel version: 0

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.

Created: 12 Oct 2016, 9:44 a.m.

Panel version: 0.8

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

Epidermolysis bullosa dystrophica (AD), OMIM:131750
Epidermolysis bullosa, pretibial (AR,AD), OMIM:131850
Epidermolysis bullosa dystrophica (AR), OMIM:226600
EBD, Bart type (AD), OMIM:132000
Epidermolysis bullosa pruriginosa, OMIM:604129
Transient bullous of the newborn (AR,AD), OMIM:131705
EBD inversa (AR), OMIM:226600

OMIM

120120

Clinvar variants

Variants in COL7A1

Penetrance

Complete

Publications

Panels with this gene

History Filter Activity

26 Oct 2021, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: COL7A1 were changed from 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 to Epidermolysis bullosa dystrophica (AD), OMIM:131750; Epidermolysis bullosa, pretibial (AR,AD), OMIM:131850; Epidermolysis bullosa dystrophica (AR), OMIM:226600; EBD, Bart type (AD), OMIM:132000; Epidermolysis bullosa pruriginosa, OMIM:604129; Transient bullous of the newborn (AR,AD), OMIM:131705; EBD inversa (AR), OMIM:226600

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