Osteogenesis imperfecta
Gene: COL1A1
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: COL1A1; 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=COL1A1Created: 8 Dec 2015, noon
Variants in this gene exhibit both dominant negative and loss of function (haploinsufficiency) modes of pathogenicity.Created: 26 Nov 2015, 1:21 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mode of pathogenicity
Other
Source NHS GMS was added to COL1A1. Rating Changed from Green List (high evidence) to Green List (high evidence)
This gene has been classified as Green List (High Evidence).
COL1A1 was added to Osteogenesis Imperfecta panel. Sources: Eligibility statement prior genetic testing
Model of inheritance for gene COL1A1 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Model of inheritance for gene COL1A1 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Model of inheritance for gene COL1A1 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Model of inheritance for gene COL1A1 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Model of inheritance for gene COL1A1 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Model of inheritance for gene COL1A1 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Model of inheritance for gene COL1A1 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Model of inheritance for gene COL1A1 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Model of inheritance for gene COL1A1 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Model of inheritance for gene COL1A1 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Model of inheritance for gene COL1A1 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Model of inheritance for gene COL1A1 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Model of inheritance for gene COL1A1 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Model of inheritance for gene COL1A1 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Model of inheritance for gene COL1A1 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
COL1A1 was added to Osteogenesis Imperfecta panel. Sources: UKGTN
COL1A1 was added to Osteogenesis Imperfecta panel. Sources: Emory Genetics Laboratory
Model of inheritance for gene COL1A1 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
COL1A1 was added to Osteogenesis Imperfecta panel. Sources: Illumina TruGenome Clinical Sequencing Services
COL1A1 was added to Osteogenesis Imperfecta panel. Sources: Radboud University Medical Center, Nijmegen
COL1A1 was added to Osteogenesis Imperfecta panel. Sources: Expert