Skeletal dysplasia
Gene: COL9A1EnsemblGeneIds (GRCh38): ENSG00000112280
EnsemblGeneIds (GRCh37): ENSG00000112280
OMIM: 120210, Gene2Phenotype
COL9A1 is in 15 panels
5 reviews
Arina Puzriakova (Genomics England Curator)
Comment on mode of inheritance: MOI should be updated from 'Monoallelic' to 'Both mono- and biallelic' at the next GMS panel update. COL9A1 is associated with two relevant disorders as they both include epiphyseal dysplasia - one of which shows biallelic inheritance (Stickler syndrome, type IV, OMIM:614134) while the other is associated with monoallelic inheritance (Epiphyseal dysplasia, multiple, 6, OMIM:614135)Created: 26 Oct 2021, 3:39 p.m. | Last Modified: 26 Oct 2021, 3:39 p.m.
Panel Version: 2.143
Tracy Lester (Genetics laboratory, Oxford UK)
Multiple epiphyseal dysplasia & pseudoachondroplasia gp of SD. At least 3 cases reported.; Review on behalf of Tracy LesterCreated: 6 Mar 2019, 11:44 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Epiphyseal dysplasia, multiple, 6 614135; Stickler syndrome, type IV 614134
Eleanor Williams (Genomics England Curator)
The mode of inheritance of this gene has been updated to BOTH monoallelic and biallelic, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.Created: 30 Jan 2023, 2:18 p.m. | Last Modified: 30 Jan 2023, 2:25 p.m.
Panel Version: 3.5
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: COL9A1; Initial rating suggestion: GreenCreated: 6 Mar 2019, 11:36 a.m.
Sarah Leigh (Genomics England Curator)
Comment when marking as ready: Associated with phenotypes in G2P. Three variants reported in the overlapping phenotypes (two in Stickler syndrome, type IV 614134 and one in Epiphyseal dysplasia, multiple, 6 614135).Created: 1 Aug 2016, 1:08 p.m.
Listed as associated with Skeletal Dysplasia by Gene Advisor (June 2016), Steve AbbsCreated: 27 Jul 2016, 9:28 a.m.
Ana Beleza (Bristol Regional Genetics Service)
Tier 1Created: 17 Jun 2016, 8:02 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Epiphyseal dysplasia, multiple, 6 614135; Stickler syndrome, type IV 614134
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BOTH monoallelic and biallelic, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Expert Review Green
- Illumina TruGenome Clinical Sequencing Services
- Expert
- Emory Genetics Laboratory
- Radboud University Medical Center, Nijmegen
- Emory Genetics Laboratory
- Phenotypes
-
- Stickler syndrome, type IV, OMIM:614134
- Epiphyseal dysplasia, multiple, 6, OMIM:614135
- OMIM
- 120210
- Clinvar variants
- Variants in COL9A1
- Penetrance
- Complete
- Panels with this gene
-
- Thoracic aortic aneurysm or dissection (GMS)
- DDG2P
- Intellectual disability
- Stickler syndrome
- Osteogenesis imperfecta
- Clefting
- Retinal disorders
- Multiple Epiphyseal Dysplasia
- Thoracic aortic aneurysm or dissection
- Structural eye disease
- Monogenic hearing loss
- Ehlers Danlos syndrome with a likely monogenic cause
- Fetal anomalies
- Glaucoma (developmental)
- Skeletal dysplasia
History Filter Activity
Removed Tag
Eleanor Williams (Genomics England Curator)Tag Q4_21_MOI was removed from gene: COL9A1.
Set mode of inheritance
Eleanor Williams (Genomics England Curator)Mode of inheritance for gene COL9A1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added Tag
Arina Puzriakova (Genomics England Curator)Tag Q4_21_MOI tag was added to gene: COL9A1.
Set mode of inheritance
Arina Puzriakova (Genomics England Curator)Mode of inheritance for gene: COL9A1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: COL9A1 were changed from Stickler syndrome, type IV 614134; Epiphyseal dysplasia, multiple, 6 614135 to Stickler syndrome, type IV, OMIM:614134; Epiphyseal dysplasia, multiple, 6, OMIM:614135
Set Phenotypes
Eleanor Williams (Genomics England Curator)Added phenotypes Stickler syndrome, type IV 614134; Epiphyseal dysplasia, multiple, 6 614135 for gene: COL9A1
Added New Source, Status Update
Eleanor Williams (Genomics England Curator)Source NHS GMS was added to COL9A1. Rating Changed from Green List (high evidence) to Green List (high evidence)
panel promoted to version 1
Sarah Leigh (Genomics England Curator)Promoted to version 1 9th August 2016
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for COL9A1 were set to Epiphyseal dysplasia, multiple, 6 614135; Stickler syndrome, type IV 614134
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Mode of Inheritance, Added New Source
Sarah Leigh (Genomics England Curator)COL9A1 was added to Unexplained skeletal dysplasiapanel. Source: Expert COL9A1 was added to Unexplained skeletal dysplasiapanel. Source: Expert Review Red Model of inheritance for gene COL9A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Set Mode of Inheritance, Added New Source
Sarah Leigh (Genomics England Curator)COL9A1 was added to Unexplained skeletal dysplasiapanel. Source: Radboud University Medical Center, Nijmegen COL9A1 was added to Unexplained skeletal dysplasiapanel. Source: Illumina TruGenome Clinical Sequencing Services COL9A1 was added to Unexplained skeletal dysplasiapanel. Source: Emory Genetics Laboratory COL9A1 was added to Unexplained skeletal dysplasiapanel. Source: Expert Review Green Model of inheritance for gene COL9A1 was set to BIALLELIC, autosomal or pseudoautosomal
Added New Source
Sarah Leigh (Genomics England Curator)COL9A1 was added to Unexplained skeletal dysplasiapanel. Sources:
Created
Sarah Leigh (Genomics England Curator)COL9A1 was created by sleigh