Osteogenesis imperfecta
Gene: COL1A2

COL1A2 (collagen type I alpha 2 chain)
EnsemblGeneIds (GRCh38): ENSG00000164692
EnsemblGeneIds (GRCh37): ENSG00000164692
OMIM: 120160, Gene2Phenotype
COL1A2 is in 8 panels

5 reviews

Duncan Baker (Sheffield Genetics)

Green List (high evidence)

Created: 3 Apr 2019, 4:14 p.m.

Panel version: 1.19

Eleanor Williams (Genomics England Curator)

I don't know

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: green
Created: 3 Apr 2019, 4:08 p.m.

Created: 3 Apr 2019, 4:08 p.m.

Panel version: 1.18

Meena Balasubramanian (Sheffield Children's NHS Foundation Trust)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Created: 5 Nov 2017, 2:41 a.m.

Panel version: 0

Rebecca Pollitt (Sheffield Diagnostic Genetics Service ; University of Sheffield)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Variants in this GENE are reported as part of current diagnostic practice

Created: 5 Nov 2017, 2:41 a.m.

Panel version: 0

Raymond Dalgleish (University of Leicester)

Green List (high evidence)

https://oi.gene.le.ac.uk/home.php?select_db=COL1A2
Created: 8 Dec 2015, noon

Created: 8 Dec 2015, noon

Panel version: 0

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Sources

NHS GMS
Expert Review Green
Eligibility statement prior genetic testing
UKGTN
Emory Genetics Laboratory
Illumina TruGenome Clinical Sequencing Services
Radboud University Medical Center, Nijmegen
Expert

Phenotypes

Ehlers-Danlos syndrome, type VIIB, 130060
Osteogenesis imperfecta, type IV, 166220
Osteogenesis imperfecta, type III, 259420
Osteogenesis imperfecta, type II, 166210
{Osteoporosis, postmenopausal}, 166710
Ehlers-Danlos syndrome, cardi
Osteogenesis Imperfecta, Dominant
Osteogenesis Imperfecta and Decreased Bone Density
skeletal dysplasias
Osteogenesis Imperfecta, Type IV
Osteogenesis Imperfecta, Type II
Osteogenesis Imperfecta, Type III

OMIM

120160

Clinvar variants

Variants in COL1A2

Penetrance

Complete

Panels with this gene

History Filter Activity

14 Apr 2022, Gel status: 3

Set mode of inheritance

Eleanor Williams (Genomics England Curator)

Mode of inheritance for gene: COL1A2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

13 Mar 2019, Gel status: 3

Added New Source, Status Update

Eleanor Williams (Genomics England Curator)

Source NHS GMS was added to COL1A2. Rating Changed from Green List (high evidence) to Green List (high evidence)

10 May 2016, Gel status: 4

Gene classified by Genomics England curator

Chris Boustred (Genomics England)

This gene has been classified as Green List (High Evidence).

12 Aug 2015, Gel status: 4