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  3. COL1A1
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Osteogenesis Imperfecta and Osteoporosis

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 9 panels

1 review

Sangavi Sivagnanasundram (Melbourne Health)

Green List (high evidence)

Classified Definitive by ClinGen Skeletal Disorders Panel on 28/09/2023 - https://search.clinicalgenome.org/CCID:004508
Reported in multiple unrelated individuals with OI as a presenting feature.
Created: 4 Dec 2024, 4:17 a.m. | Last Modified: 4 Dec 2024, 4:17 a.m.
Panel Version: 0.115

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1 MONDO:0030854; Osteogenesis imperfecta type 1 MONDO:0008146; Osteogenesis imperfecta type 2 MONDO:0008147; Osteogenesis imperfecta type 3 MONDO:0009804; Osteogenesis imperfecta type 4; MONDO:0008148

Publications

Created: 4 Dec 2024, 4:17 a.m.
Last Modified: 4 Dec 2024, 4:17 a.m.
Panel version: 0.115

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1 MONDO:0030854
  • Osteogenesis imperfecta type 1 MONDO:0008146
  • Osteogenesis imperfecta type 2 MONDO:0008147
  • Osteogenesis imperfecta type 3 MONDO:0009804
  • Osteogenesis imperfecta type 4
  • MONDO:0008148
OMIM
120150
Clinvar variants
Variants in COL1A1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

8 Dec 2024, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: col1a1 has been classified as Green List (High Evidence).

8 Dec 2024, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: COL1A1 were changed from to combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1 MONDO:0030854; Osteogenesis imperfecta type 1 MONDO:0008146; Osteogenesis imperfecta type 2 MONDO:0008147; Osteogenesis imperfecta type 3 MONDO:0009804; Osteogenesis imperfecta type 4; MONDO:0008148

8 Dec 2024, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: COL1A1 were set to

8 Dec 2024, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: COL1A1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: COL1A1 was added gene: COL1A1 was added to Osteogenesis imperfecta_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: COL1A1 was set to Unknown