Research panel - Severe Paediatric Disorders
Gene: COL7A1

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

1 review

Louise Daugherty (Genomics England Curator)

I don't know

Initial gene list (NGC_genelist-20190823_GREEN_dis_moi_forCuration_20200211.xlsx) collated by Dr Courtney French (University of Cambridge University Hospital NHS Foundation), Dr Karyn Megy (Clinical Feedback Lead, NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation), Dr Alba Sanchis-Juan (NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation) and Lucy Raymond (Professor of Medical Genetics and Neurodevelopment, University of Cambridge University Hospital NHS Foundation). Submitted to the PanelApp resource January 2020 on behalf of the Next Generation Children Project, Addenbrookes' Hospital, Cambridge. Gene Symbol submitted: COL7A1; Recommended initial gene rating: Green List (high evidence); Phenotypes: EBD inversa, 226600 (3) | EBD, Bart type, 132000 (3) | EBD, localisata variant (3) | Epidermolysis bullosa dystrophica, AD, 131750 (3) | Epidermolysis bullosa dystrophica, AR, 226600 (3) | Epidermolysis bullosa pruriginosa, 604129 (3) | Epidermolysis bullosa, pretibial, 131850 (3) | Toenail dystrophy, isolated, 607523 (3) | Transient bullous of the newborn, 131705 (3); Mode of inheritance: Autosomal recessive | Autosomal dominant | ND | Autosomal dominant | Autosomal recessive | Autosomal recessive, Autosomal dominant | Autosomal recessive, Autosomal dominant | Autosomal dominant | Autosomal recessive, Autosomal dominant
Created: 20 Feb 2020, 5:17 p.m. | Last Modified: 20 Feb 2020, 5:17 p.m.

Panel Version: 0.12

Created: 20 Feb 2020, 5:17 p.m.
Last Modified: 20 Feb 2020, 5:17 p.m.
Panel version: 0.12

Details

Mode of Inheritance

BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Sources

Next Generation Children Project
Expert Review Green
Expert list

Phenotypes

Epidermolysis bullosa dystrophica, AD, 131750
EBD inversa, 226600
EBD, localisata variant
Epidermolysis bullosa pruriginosa, 604129
Toenail dystrophy, isolated, 607523
Epidermolysis bullosa dystrophica, AR, 226600
Epidermolysis bullosa, pretibial, 131850
Transient bullous of the newborn, 131705
EBD, Bart type, 132000

OMIM

120120

Clinvar variants

Variants in COL7A1

Penetrance

None

Publications

30847515

Panels with this gene