Skeletal dysplasia
Gene: COL9A1Comment 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
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
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.
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.
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
Tag Q4_21_MOI was removed from gene: COL9A1.
Mode of inheritance for gene COL9A1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Tag Q4_21_MOI tag was added to gene: COL9A1.
Mode of inheritance for gene: COL9A1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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
Added phenotypes Stickler syndrome, type IV 614134; Epiphyseal dysplasia, multiple, 6 614135 for gene: COL9A1
Source NHS GMS was added to COL9A1. 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).
This gene has been classified as Red List (Low Evidence).
Phenotypes for COL9A1 were set to Epiphyseal dysplasia, multiple, 6 614135; Stickler syndrome, type IV 614134
This gene has been classified as Red List (Low Evidence).
This gene has been classified as Green List (High Evidence).
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
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
COL9A1 was added to Unexplained skeletal dysplasiapanel. Sources:
COL9A1 was created by sleigh