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Research panel - 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 12 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
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

History Filter Activity

21 Feb 2020, Gel status: 3

Set mode of inheritance

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene COL1A1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

20 Feb 2020, Gel status: 3

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene COL1A1 were updated from to 30847515

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added 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 for gene: COL1A1

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added 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 for gene: COL1A1

19 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added 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 for gene: COL1A1

19 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Osteogenesis imperfecta, type II, 166210; Osteogenesis imperfecta, type IV, 166220; Osteogenesis imperfecta, type I, 166200; Osteogenesis imperfecta, type III, 259420; Ehlers-Danlos syndrome, arthrochalasia type, 1, 130060; Caffey disease, 114000 for gene: COL1A1

14 Feb 2020, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source Next Generation Children Project was added to COL1A1.

14 Feb 2020, Gel status: 3

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source Expert Review Green was added to COL1A1. Rating Changed from Red List (low evidence) to Green List (high evidence)

14 Feb 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

gene: COL1A1 was added gene: COL1A1 was added to Severe Paediatric Disorders. Sources: Expert list Mode of inheritance for gene: COL1A1 was set to