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Severe Paediatric Disorders

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 6 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

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
Panels with this gene