Epidermolysis bullosa
Gene: COL7A1EnsemblGeneIds (GRCh38): ENSG00000114270
EnsemblGeneIds (GRCh37): ENSG00000114270
OMIM: 120120, Gene2Phenotype
COL7A1 is in 9 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Well established gene-disease association with multiple EB variants, AD and AR.Created: 12 Feb 2021, 10:02 a.m. | Last Modified: 12 Feb 2021, 10:02 a.m.
Panel Version: 0.45
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
EBD inversa, MIM# 226600; EBD, Bart type MIM# 132000; EBD, localisata variant; Epidermolysis bullosa dystrophica, MIM# 131750; Epidermolysis bullosa dystrophica, 226600; Epidermolysis bullosa pruriginosa 604129; Epidermolysis bullosa, pretibial, MIM# 131850; Transient bullous of the newborn 131705
Details
- Mode of Inheritance
- BOTH monoallelic and biallelic, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Victorian Clinical Genetics Services
- Phenotypes
-
- EBD inversa, MIM# 226600
- EBD, Bart type MIM# 132000
- EBD, localisata variant
- Epidermolysis bullosa dystrophica, MIM# 131750
- Epidermolysis bullosa dystrophica, 226600
- Epidermolysis bullosa pruriginosa 604129
- Epidermolysis bullosa, pretibial, MIM# 131850
- Transient bullous of the newborn 131705
- OMIM
- 120120
- Clinvar variants
- Variants in COL7A1
- Penetrance
- None
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: col7a1 has been classified as Green List (High Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: COL7A1 were changed from to EBD inversa, MIM# 226600; EBD, Bart type MIM# 132000; EBD, localisata variant; Epidermolysis bullosa dystrophica, MIM# 131750; Epidermolysis bullosa dystrophica, 226600; Epidermolysis bullosa pruriginosa 604129; Epidermolysis bullosa, pretibial, MIM# 131850; Transient bullous of the newborn 131705
Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Mode of inheritance for gene: COL7A1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Created, Added New Source, Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: COL7A1 was added gene: COL7A1 was added to Epidermolysis bullosa_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: COL7A1 was set to Unknown