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Severe Paediatric Disorders

Gene: COL1A1

Green List (high evidence)

COL1A1 (collagen type I alpha 1 chain)
EnsemblGeneIds (GRCh38): ENSG00000108821
EnsemblGeneIds (GRCh37): ENSG00000108821
OMIM: 120150, Gene2Phenotype
COL1A1 is in 14 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: COL1A1; Recommended initial gene rating: Green List (high evidence); Phenotypes: Caffey disease, 114000 (3) | Ehlers-Danlos syndrome, arthrochalasia type, 1, 130060 (3) | Osteogenesis imperfecta, type I, 166200 (3) | Osteogenesis imperfecta, type II, 166210 (3) | Osteogenesis imperfecta, type III, 259420 (3) | Osteogenesis imperfecta, type IV, 166220 (3); Mode of inheritance: Autosomal dominant | Autosomal dominant | Autosomal dominant | Autosomal dominant | Autosomal dominant | 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
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Next Generation Children Project
  • Expert Review Green
  • Expert list
Phenotypes
  • Ehlers-Danlos syndrome, arthrochalasia type, 1, 130060
  • Osteogenesis imperfecta, type I, 166200
  • Osteogenesis imperfecta, type III, 259420
  • Caffey disease, 114000
  • Osteogenesis imperfecta, type II, 166210
  • Osteogenesis imperfecta, type IV, 166220
OMIM
120150
Clinvar variants
Variants in COL1A1
Penetrance
None
Publications
Panels with this gene