Epidermolysis bullosa
Gene: COL7A1
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
dystrophic Epidermolysis bullosa
Comment on list classification: Expert review green, and multiple cases reported with different variants.Created: 12 Oct 2016, 9:44 a.m.
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
Panel reviews were assessed, and panel was revised according to reviews and further curation.
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;
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
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
Publications for COL7A1 were set to 23616197; 24599399; 20055845;19197535;11781296
Mode of inheritance for COL7A1 was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
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
COL7A1 was added to Epidermolysis bullosapanel. Source: Radboud University Medical Center, Nijmegen
COL7A1 was created by ellenmcdonagh
COL7A1 was added to Epidermolysis bullosapanel. Sources: Eligibility statement prior genetic testing