Skeletal dysplasia
Gene: COL11A1
In type 2 collagen gp of SD. 228520 is AR, other disorders are AD.; Review on behalf of Tracy LesterCreated: 6 Mar 2019, 11:44 a.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Fibrochondrogenesis 1 228520; Marshall syndrome 154780; Stickler syndrome, type II 604841
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: COL11A1; Initial rating suggestion: GreenCreated: 6 Mar 2019, 11:36 a.m.
Listed as associated with Skeletal Dysplasia by Gene Advisor (June 2016), Steve AbbsCreated: 27 Jul 2016, 9:28 a.m.
Comment when marking as ready: Associated with phenotypes in G2P. Numerous variants reported in these phenotypes.Created: 13 Jul 2016, 8:12 a.m.
Tier 1Created: 17 Jun 2016, 8:02 a.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Fibrochondrogenesis 1 228520; Marshall syndrome 154780; Stickler syndrome, type II 604841
Variants in this GENE are reported as part of current diagnostic practice
Phenotypes for gene: COL11A1 were changed from Stickler syndrome, type II 604841; Marshall syndrome 154780; Fibrochondrogenesis 1 228520 to Stickler syndrome, type II, OMIM:604841; Marshall syndrome, OMIM:154780; Fibrochondrogenesis 1, OMIM:228520
Added phenotypes Stickler syndrome, type II 604841; Marshall syndrome 154780; Fibrochondrogenesis 1 228520 for gene: COL11A1
Source NHS GMS was added to COL11A1. 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).
Phenotypes for COL11A1 were set to Fibrochondrogenesis 1 228520; Marshall syndrome 154780; Stickler syndrome, type II 604841
COL11A1 was added to Unexplained skeletal dysplasiapanel. Source: Expert Review Red
COL11A1 was added to Unexplained skeletal dysplasiapanel. Source: Radboud University Medical Center, Nijmegen COL11A1 was added to Unexplained skeletal dysplasiapanel. Source: Emory Genetics Laboratory COL11A1 was added to Unexplained skeletal dysplasiapanel. Source: Eligibility statement prior genetic testing COL11A1 was added to Unexplained skeletal dysplasiapanel. Source: Expert Review Green Model of inheritance for gene COL11A1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
COL11A1 was created by sleigh
COL11A1 was added to Unexplained skeletal dysplasiapanel. Sources: