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Epidermolysis bullosa and congenital skin fragility

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 5 panels

3 reviews

Ivone Leong (Genomics England Curator)

Comment on phenotypes: Previous phenotypes:
Epidermolysis bullosa dystrophica (AD), 131750;Epidermolysis bullosa, pretibial (AR,AD), 131850;Epidermolysis bullosa dystrophica (AR), 226600;EBD, Bart type (AD), 132000;Dystrophic Epidermolysis Bullosa;Transient bullous of the newborn (AR,AD), 131705;EBD inversa (AR), 226600
Created: 24 Mar 2021, 11:18 a.m. | Last Modified: 24 Mar 2021, 11:18 a.m.
Panel Version: 1.11
Created: 24 Mar 2021, 11:18 a.m.
Last Modified: 24 Mar 2021, 11:18 a.m.
Panel version: 1.11

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: Imported from Epidermolysis bullosa 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: Imported from Epidermolysis bullosa panel version 0.8

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
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
None
Publications
Panels with this gene

History Filter Activity

24 Mar 2021, Gel status: 3

Set Phenotypes

Ivone Leong (Genomics England Curator)

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

3 Jan 2019, Gel status: 4

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

Ellen McDonagh (Genomics England Curator)

gene: COL7A1 was added gene: COL7A1 was added to Epidermolysis bullosa and congenital skin fragility. Sources: Expert Review Green Mode of inheritance for gene: COL7A1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: COL7A1 were set to 11781296; 24599399; 20055845; 19197535; 23616197 Phenotypes for gene: COL7A1 were set to Epidermolysis bullosa dystrophica (AD), 131750; Epidermolysis bullosa, pretibial (AR,AD), 131850; Epidermolysis bullosa dystrophica (AR), 226600; EBD, Bart type (AD), 132000; Dystrophic Epidermolysis Bullosa; Transient bullous of the newborn (AR,AD), 131705; EBD inversa (AR), 226600