Stickler syndrome
Gene: COL2A1Comment on phenotypes: Previous phenotypes:
Stickler syndrome, type I, 108300;Kniest dysplasia, 156550;Achondrogenesis, type II or hypochondrogenesis, 200610;SED congenita, 183900;SMED Strudwick type, 184250;Epiphyseal dysplasia, multiple, with myopia and deafness, 132450Created: 3 Mar 2021, 4:23 p.m. | Last Modified: 3 Mar 2021, 4:23 p.m.
Panel Version: 2.9
Comment on mode of inheritance: Checked imprinted gene list.Created: 1 Feb 2016, 10:06 a.m.
Comment when marking as ready: DDG2P: LOF mechanismCreated: 17 Dec 2015, 11:52 a.m.
Splice site mutations and missense substitutions of Glycines within the Gly-Xaa-Yaa repeating amino acid sequence of the collagen are pathogenicCreated: 16 Oct 2015, 10:40 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications
Mode of pathogenicity
Other
Variants in this GENE are reported as part of current diagnostic practice
Phenotypes for gene: COL2A1 were changed from Stickler syndrome, type I, 108300; Kniest dysplasia, 156550; Achondrogenesis, type II or hypochondrogenesis, 200610; SED congenita, 183900; SMED Strudwick type, 184250; Epiphyseal dysplasia, multiple, with myopia and deafness, 132450 to Stickler syndrome, type I, OMIM:108300
Publications for gene: COL2A1 were set to PMID: 16752401; 20513134
Phenotypes for COL2A1 were set to Stickler syndrome, type I, 108300; Kniest dysplasia, 156550; Achondrogenesis, type II or hypochondrogenesis, 200610; SED congenita, 183900; SMED Strudwick type, 184250; Epiphyseal dysplasia, multiple, with myopia and deafness, 132450
Publications for COL2A1 were set to PMID: 16752401; 20513134
Mode of inheritance for COL2A1 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
This gene has been classified as Green List (High Evidence).
COL2A1 was added to Stickler syndromepanel. Sources: Eligibility statement prior genetic testing
COL2A1 was added to Stickler syndromepanel. Sources: Radboud University Medical Center, Nijmegen
COL2A1 was added to Stickler syndromepanel. Sources: UKGTN
COL2A1 was added to Stickler syndromepanel. Sources: Emory Genetics Laboratory
COL2A1 was added to Stickler syndromepanel. Sources: Illumina TruGenome Clinical Sequencing Services