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  3. COL9A1
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Multiple epiphyseal dysplasia and pseudoachondroplasia

Gene: COL9A1

Red List (low evidence)
COL9A1 (collagen type IX alpha 1 chain)
EnsemblGeneIds (GRCh38): ENSG00000112280
EnsemblGeneIds (GRCh37): ENSG00000112280
OMIM: 120210, Gene2Phenotype
COL9A1 is in 12 panels

2 reviews

Ain Roesley (Victorian Clinical Genetics Services)

Comment on list classification: Too many hets in gnomAD for the variants reported thus far
Created: 4 May 2022, 3:39 a.m. | Last Modified: 4 May 2022, 3:39 a.m.
Panel Version: 0.5
Created: 4 May 2022, 3:39 a.m.
Last Modified: 4 May 2022, 3:39 a.m.
Panel version: 0.5

Paul De Fazio (Victorian Clinical Genetics Services)

I don't know

Single family with a splice variant, predicted by the authors to result in in-frame exon skipping, reported in 2001 (PMID: 11565064). Variant has 63 hets in gnomAD.

A second splice variant was reported in 2017 in an individual with a dual diagnosis of COL9A1 and ATRX (PMID: 27959697). The COL9A1 variant has 19 hets in gnomAD. No phenotypes given in the paper but the individual was reported in ClinVar (https://www.ncbi.nlm.nih.gov/clinvar/variation/374336/evidence/)

Heterozygous mice transfected with a COL9A1 intragenic deletion showed changes similiar to osteoarthritis, as do homozygous null mice (PMID: 8197187, 8464901)
Created: 19 May 2021, 2:03 a.m. | Last Modified: 19 May 2021, 6:38 a.m.
Panel Version: 0.3

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

Phenotypes
?Epiphyseal dysplasia, multiple, 6, MIM#614135

Publications

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

Created: 19 May 2021, 2:03 a.m.
Last Modified: 19 May 2021, 6:38 a.m.
Panel version: 0.3

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Epiphyseal dysplasia, multiple, 6 614135
OMIM
120210
Clinvar variants
Variants in COL9A1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

4 May 2022, Gel status: 1

Entity classified by Genomics England curator

Ain Roesley (Victorian Clinical Genetics Services)

Gene: col9a1 has been classified as Red List (Low Evidence).

4 May 2022, Gel status: 1

Set Phenotypes

Ain Roesley (Victorian Clinical Genetics Services)

Phenotypes for gene: COL9A1 were changed from Stickler syndrome, type IV 614134; Epiphyseal dysplasia, multiple, 6 614135 to Epiphyseal dysplasia, multiple, 6 614135

4 May 2022, Gel status: 1

Set publications

Ain Roesley (Victorian Clinical Genetics Services)

Publications for gene: COL9A1 were set to

4 May 2022, Gel status: 1

Entity classified by Genomics England curator

Ain Roesley (Victorian Clinical Genetics Services)

Gene: col9a1 has been classified as Red List (Low Evidence).

2 Apr 2020, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Tiong Tan (Victorian Clinical Genetics Services)

gene: COL9A1 was added gene: COL9A1 was added to Multiple epiphyseal dysplasia and pseudoachondroplasia. Sources: Victorian Clinical Genetics Services,Expert Review Green Mode of inheritance for gene: COL9A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: COL9A1 were set to Stickler syndrome, type IV 614134; Epiphyseal dysplasia, multiple, 6 614135