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Newborns main panel

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

2 reviews

Arina Puzriakova (Genomics England Curator)

Special Consideration: Newborns Variant Discussion (NVD) recommended.

Additional Information: Sheffield Diagnostic Genetics Service ([email protected]) have requested to be involved at the variant review stage. They will be able to assist with variant interpretation prior to reporting.
Created: 4 Nov 2025, 12:17 p.m. | Last Modified: 4 Nov 2025, 5:04 p.m.
Panel Version: 0.480
Created: 4 Nov 2025, 12:17 p.m.
Last Modified: 4 Nov 2025, 5:04 p.m.
Panel version: 0.480

Mafalda Gomes (Genomics England Curator)

The mechanisms of pathogenicity are loss-of-function (LOF) and dominant-negative (DN).
Created: 1 Jun 2023, 2:40 p.m. | Last Modified: 1 Jun 2023, 2:40 p.m.
Panel Version: 0.137
COL1A1 curation results (clinicalgenome.org)
Created: 1 Jun 2023, 12:22 p.m. | Last Modified: 1 Jun 2023, 12:22 p.m.
Panel Version: 0.134
In general, the primary mechanism for disease can be viewed as either quantitative or qualitative impacts on collagen type 1 protein. Quantitative changes, which lead to loss of function, tend to have a milder phenotype when compared to qualitative changes, which impart a dominant-negative effect.
Created: 1 Jun 2023, 12:20 p.m. | Last Modified: 1 Jun 2023, 12:20 p.m.
Panel Version: 0.133
Created: 1 Jun 2023, 12:20 p.m.
Last Modified: 1 Jun 2023, 12:20 p.m.
Panel version: 0.137

History Filter Activity

4 Nov 2025, Gel status: 3

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag special_consideration tag was added to gene: COL1A1.

16 Nov 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Phenotypes for gene: COL1A1 were changed from Osteogenesis Imperfecta to COL1A1 related Osteogenesis Imperfecta

14 Sep 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Osteogenesis Imperfecta for gene: COL1A1

5 Jul 2023, Gel status: 3

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Green was added to COL1A1. Added phenotypes Osteogenesis Imperfecta for gene: COL1A1 Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

31 May 2023, Gel status: 2

Removed Tag

Mafalda Gomes (Genomics England Curator)

Tag GOF/LOF was removed from gene: COL1A1.

31 May 2023, Gel status: 2

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Amber was added to COL1A1. Added phenotypes Osteogenesis Imperfecta for gene: COL1A1 Rating Changed from No List (delete) to Amber List (moderate evidence)

5 May 2023, Gel status: 0

Added New Source, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Removed was added to COL1A1. Rating Changed from Amber List (moderate evidence) to No List (delete)

9 Mar 2023, Gel status: 2

Added Tag

Mafalda Gomes (Genomics England Curator)

Tag GOF/LOF tag was added to gene: COL1A1.

9 Mar 2023, Gel status: 2

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Osteogenesis Imperfecta for gene: COL1A1

9 Mar 2023, Gel status: 2

Created, Added New Source, Set mode of inheritance

Mafalda Gomes (Genomics England Curator)

gene: COL1A1 was added gene: COL1A1 was added to Newborns main panel. Sources: Expert Review Amber Mode of inheritance for gene: COL1A1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown