Osteogenesis imperfecta
Gene: COL1A2
Comment on mode of inheritance: In OMIM this gene is associated with 4 Osteogenesis imperfecta phenotypes, all of which are listed with an autosomal dominant mode of inheritance.
The gene is associated with Ehlers-Danlos syndrome, cardiac valvular type with a autosomal recessive mode of inheritance but this does not appear to affect the bones.
Therefore, monoallelic is the appropriate mode of inheritance for this gene on this panel.Created: 14 Apr 2022, 1:33 p.m. | Last Modified: 14 Apr 2022, 1:33 p.m.
Panel Version: 2.47
This gene was part of an initial gene list collated by Duncan Baker, Sheffield Diagnostic Genetics Service, January 2019 on behalf of the GMS Musculoskeletal Specialist Group; Gene symbol submitted: COL1A2; Suggested initial gene rating: greenCreated: 3 Apr 2019, 4:08 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Variants in this GENE are reported as part of current diagnostic practice
https://oi.gene.le.ac.uk/home.php?select_db=COL1A2Created: 8 Dec 2015, noon
Mode of inheritance for gene: COL1A2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Source NHS GMS was added to COL1A2. Rating Changed from Green List (high evidence) to Green List (high evidence)
This gene has been classified as Green List (High Evidence).
COL1A2 was added to Osteogenesis Imperfecta panel. Sources: Eligibility statement prior genetic testing
Model of inheritance for gene COL1A2 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Model of inheritance for gene COL1A2 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Model of inheritance for gene COL1A2 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Model of inheritance for gene COL1A2 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Model of inheritance for gene COL1A2 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Model of inheritance for gene COL1A2 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Model of inheritance for gene COL1A2 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Model of inheritance for gene COL1A2 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Model of inheritance for gene COL1A2 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Model of inheritance for gene COL1A2 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Model of inheritance for gene COL1A2 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Model of inheritance for gene COL1A2 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Model of inheritance for gene COL1A2 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Model of inheritance for gene COL1A2 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Model of inheritance for gene COL1A2 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
COL1A2 was added to Osteogenesis Imperfecta panel. Sources: UKGTN
COL1A2 was added to Osteogenesis Imperfecta panel. Sources: Emory Genetics Laboratory
Model of inheritance for gene COL1A2 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
COL1A2 was added to Osteogenesis Imperfecta panel. Sources: Illumina TruGenome Clinical Sequencing Services
COL1A2 was added to Osteogenesis Imperfecta panel. Sources: Radboud University Medical Center, Nijmegen
COL1A2 was added to Osteogenesis Imperfecta panel. Sources: Expert