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Skeletal dysplasia

Gene: COL9A1

Green List (high evidence)

COL9A1 (collagen type IX alpha 1 chain)
EnsemblGeneIds (GRCh38): ENSG00000112280
EnsemblGeneIds (GRCh37): ENSG00000112280
OMIM: 120210, Gene2Phenotype
COL9A1 is in 17 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
Epiphyseal dysplasia, multiple, 6 614135; Stickler syndrome, type IV 614134

Eleanor Williams (Genomics England Curator)

I don't know

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: Green
Created: 6 Mar 2019, 11:36 a.m.

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

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 Abbs
Created: 27 Jul 2016, 9:28 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, 6 614135; Stickler syndrome, type IV 614134

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
  • Illumina TruGenome Clinical Sequencing Services
  • Expert
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
Phenotypes
  • Stickler syndrome, type IV 614134
  • Epiphyseal dysplasia, multiple, 6 614135
OMIM
120210
Clinvar variants
Variants in COL9A1
Penetrance
Complete
Panels with this gene

History Filter Activity

6 May 2019, Gel status: 4

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Added phenotypes Stickler syndrome, type IV 614134; Epiphyseal dysplasia, multiple, 6 614135 for gene: COL9A1

6 Mar 2019, Gel status: 3

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)

9 Aug 2016, Gel status: 4

panel promoted to version 1

Sarah Leigh (Genomics England Curator)

Promoted to version 1 9th August 2016

1 Aug 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: 1

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

13 Jul 2016, Gel status: 1

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for COL9A1 were set to Epiphyseal dysplasia, multiple, 6 614135; Stickler syndrome, type IV 614134

13 Jul 2016, Gel status: 1

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

21 Jun 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).

18 May 2016, Gel status: 1

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

18 May 2016, Gel status: 4

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

18 May 2016, Gel status: 0

Added New Source

Sarah Leigh (Genomics England Curator)

COL9A1 was added to Unexplained skeletal dysplasiapanel. Sources:

18 May 2016, Gel status: 0

Created

Sarah Leigh (Genomics England Curator)

COL9A1 was created by sleigh