Skeletal dysplasia
Gene: COL1A2
OI and decreasing bone density gp of SD. OI and EDS type 2 - AD. EDS cardiac type - AR.Cardiac valvular type doesn't really have SD, so red? Green for AD phenotypes.; Review on behalf of Tracy LesterCreated: 6 Mar 2019, 11:44 a.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal OR MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted (if exclude 255320)
Phenotypes
Ehlers-Danlos syndrome, cardiac valvular form 225320; Ehlers-Danlos syndrome, type VIIB 130060; Osteogenesis imperfecta, type II 166210; Osteogenesis imperfecta, type III 259420; Osteogenesis imperfecta, type IV 166220
The mode of inheritance of this gene has been updated to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown following NHS Genomic Medicine Service approval.Created: 30 Jan 2023, 2:18 p.m. | Last Modified: 30 Jan 2023, 2:30 p.m.
Panel Version: 3.5
Comment on mode of inheritance: Leaving the mode of inheritance as Both mono and biallelic for now, but adding a tag for GMS review. Only Ehlers-Danlos syndrome, cardiac valvular type is biallelic, and this phenotype may not be within scope of the Skeletal dysplasia panel.Created: 14 Apr 2022, 10:43 a.m. | Last Modified: 14 Apr 2022, 10:43 a.m.
Panel Version: 2.204
This gene was part of an initial gene list collated by Tracy Lester, Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, February 2019 on behalf of the GMS Musculoskeletal Specialist Group; Gene symbol submitted: COL1A2; Initial rating suggestion: Green or OI/EDS?Created: 6 Mar 2019, 11:36 a.m.
Listed as associated with Skeletal Dysplasia by Gene Advisor (June 2016), Steve AbbsCreated: 27 Jul 2016, 9:28 a.m.
Comment when marking as ready: Numerous variants reported in these phenotypesCreated: 13 Jul 2016, 8:16 a.m.
Tier 1Created: 17 Jun 2016, 8:02 a.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Ehlers-Danlos syndrome, cardiac valvular form 225320; Ehlers-Danlos syndrome, type VIIB 130060; Osteogenesis imperfecta, type II 166210; Osteogenesis imperfecta, type III 259420; Osteogenesis imperfecta, type IV 166220
Variants in this GENE are reported as part of current diagnostic practice
Tag Q2_22_MOI was removed from gene: COL1A2. Tag Q2_22_expert_review was removed from gene: COL1A2.
Mode of inheritance for gene COL1A2 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: COL1A2 were changed from Ehlers-Danlos syndrome, cardiac valvular form 225320; Ehlers-Danlos syndrome, type VIIB 130060; Osteogenesis imperfecta, type II 166210; Osteogenesis imperfecta, type III 259420; Osteogenesis imperfecta, type IV 166220 to Ehlers-Danlos syndrome, cardiac valvular form, OMIM:225320; Ehlers-Danlos syndrome, type VIIB, OMIM:130060; Osteogenesis imperfecta, type II, OMIM:166210; Osteogenesis imperfecta, type III, OMIM:259420; Osteogenesis imperfecta, type IV, OMIM:166220
Mode of inheritance for gene: COL1A2 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Tag Q2_22_MOI tag was added to gene: COL1A2. Tag Q2_22_expert_review tag was added to gene: COL1A2.
Added phenotypes Ehlers-Danlos syndrome, cardiac valvular form 225320; Ehlers-Danlos syndrome, type VIIB 130060; Osteogenesis imperfecta, type II 166210; Osteogenesis imperfecta, type III 259420; Osteogenesis imperfecta, type IV 166220 for gene: COL1A2
Source NHS GMS was added to COL1A2. Rating Changed from Green List (high evidence) to Green List (high evidence)
Promoted to version 1 9th August 2016
This gene has been classified as Green List (High Evidence).
Phenotypes for COL1A2 were set to Ehlers-Danlos syndrome, cardiac valvular form 225320; Ehlers-Danlos syndrome, type VIIB 130060; Osteogenesis imperfecta, type II 166210; Osteogenesis imperfecta, type III 259420; Osteogenesis imperfecta, type IV 166220
Mode of inheritance for COL1A2 was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
COL1A2 was added to Unexplained skeletal dysplasiapanel. Source: Expert COL1A2 was added to Unexplained skeletal dysplasiapanel. Source: Radboud University Medical Center, Nijmegen COL1A2 was added to Unexplained skeletal dysplasiapanel. Source: Illumina TruGenome Clinical Sequencing Services COL1A2 was added to Unexplained skeletal dysplasiapanel. Source: Emory Genetics Laboratory COL1A2 was added to Unexplained skeletal dysplasiapanel. Source: UKGTN COL1A2 was added to Unexplained skeletal dysplasiapanel. Source: Eligibility statement prior genetic testing COL1A2 was added to Unexplained skeletal dysplasiapanel. Source: Expert Review Green Model of inheritance for gene COL1A2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
COL1A2 was added to Unexplained skeletal dysplasiapanel. Sources:
COL1A2 was created by sleigh