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Skeletal dysplasia

Gene: COL9A3

Green List (high evidence)

COL9A3 (collagen type IX alpha 3 chain)
EnsemblGeneIds (GRCh38): ENSG00000092758
EnsemblGeneIds (GRCh37): ENSG00000092758
OMIM: 120270, Gene2Phenotype
COL9A3 is in 16 panels

4 reviews

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

Multiple epiphyseal dysplasia & pseudoachondroplasia gp of SD. At least 3 cases reported.; Review on behalf of Tracy Lester
Created: 6 Mar 2019, 11:44 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
MED; multiple epiphyseal dysplasia 3, with or without myopathy - 600969

Eleanor Williams (Genomics England Curator)

I don't know

Comment on mode of inheritance: Updated in-line with reviewer's recommendations and OMIM
Created: 8 May 2019, 2:03 p.m.
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: COL9A3; Initial rating suggestion: Green
Created: 6 Mar 2019, 11:36 a.m.

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

Listed as associated with Skeletal Dysplasia by Gene Advisor (June 2016), Steve Abbs
Created: 27 Jul 2016, 9:29 a.m.
Comment when marking as ready: Associated with phenotypes in G2P. Three variants reported in Epiphyseal dysplasia, multiple, 3 600969 and one in Intervertebral disc disease, susceptibility to, 603932.
Created: 13 Jul 2016, 8:32 a.m.

Ana Beleza (Bristol Regional Genetics Service)

Green List (high evidence)

Tier 1
Created: 17 Jun 2016, 8:02 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Epiphyseal dysplasia, multiple, 3 600969; Epiphyseal dysplasia, multiple, with myopathy

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

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • NHS GMS
  • Expert Review Green
  • Expert Review
  • Expert
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
Phenotypes
  • MED
  • multiple epiphyseal dysplasia
  • Epiphyseal dysplasia, multiple, with myopathy
  • Stickler syndrome type VI
  • multiple epiphyseal dysplasia 3, with or without myopathy - 600969
  • Multiple Epiphyseal Dysplasia, Dominant
  • Mutiple Epiphyseal Dysplasia
OMIM
120270
Clinvar variants
Variants in COL9A3
Penetrance
Complete
Panels with this gene

History Filter Activity

8 May 2019, Gel status: 4

Set mode of inheritance

Eleanor Williams (Genomics England Curator)

Mode of inheritance for gene: COL9A3 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

6 May 2019, Gel status: 4

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Added phenotypes MED; multiple epiphyseal dysplasia 3, with or without myopathy - 600969 for gene: COL9A3

6 Mar 2019, Gel status: 3

Added New Source, Status Update

Eleanor Williams (Genomics England Curator)

Source NHS GMS was added to COL9A3. Rating Changed from Green List (high evidence) to Green List (high evidence)

9 Aug 2016, Gel status: 4

panel promoted to version 1

Sarah Leigh (Genomics England Curator)

Promoted to version 1 9th August 2016

13 Jul 2016, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

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

13 Jul 2016, Gel status: 4

Set Mode of Inheritance

Sarah Leigh (Genomics England Curator)

Mode of inheritance for COL9A3 was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

18 May 2016, Gel status: 4

Set Mode of Inheritance, Added New Source

Sarah Leigh (Genomics England Curator)

COL9A3 was added to Unexplained skeletal dysplasiapanel. Source: Expert Review COL9A3 was added to Unexplained skeletal dysplasiapanel. Source: Expert Review Red Model of inheritance for gene COL9A3 was set to BIALLELIC, autosomal or pseudoautosomal

18 May 2016, Gel status: 4

Set Mode of Inheritance, Added New Source

Sarah Leigh (Genomics England Curator)

COL9A3 was added to Unexplained skeletal dysplasiapanel. Source: Illumina TruGenome Clinical Sequencing Services COL9A3 was added to Unexplained skeletal dysplasiapanel. Source: Emory Genetics Laboratory COL9A3 was added to Unexplained skeletal dysplasiapanel. Source: Expert COL9A3 was added to Unexplained skeletal dysplasiapanel. Source: Expert Review Green Model of inheritance for gene COL9A3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

18 May 2016, Gel status: 0

Added New Source

Sarah Leigh (Genomics England Curator)

COL9A3 was added to Unexplained skeletal dysplasiapanel. Sources:

18 May 2016, Gel status: 0

Created

Sarah Leigh (Genomics England Curator)

COL9A3 was created by sleigh