Stickler syndrome
Gene: COL9A2Comment on phenotypes: Previous phenotypes:
Epiphyseal dysplasia, multiple, 2, 600204;{Intervertebral disc disease, susceptibility to}, 603932;Stickler syndrome, type V, 614284Created: 3 Mar 2021, 4:25 p.m. | Last Modified: 3 Mar 2021, 4:25 p.m.
Panel Version: 2.11
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Variants in this GENE are reported as part of current diagnostic practice
Comment when marking as ready: DDG2P - LOF, biallelicCreated: 17 Dec 2015, 12:56 p.m.
Phenotypes for gene: COL9A2 were changed from ?Stickler syndrome, type V, OMIM:614284 to Stickler syndrome, type V, OMIM:614284
Phenotypes for gene: COL9A2 were changed from Epiphyseal dysplasia, multiple, 2, 600204; {Intervertebral disc disease, susceptibility to}, 603932; Stickler syndrome, type V, 614284 to ?Stickler syndrome, type V, OMIM:614284
Phenotypes for COL9A2 were set to Epiphyseal dysplasia, multiple, 2, 600204; {Intervertebral disc disease, susceptibility to}, 603932; Stickler syndrome, type V, 614284
This gene has been classified as Green List (High Evidence).
Publications for COL9A2 were set to 21671392
COL9A2 was added to Stickler syndromepanel. Sources: Emory Genetics Laboratory
COL9A2 was added to Stickler syndromepanel. Sources: Illumina TruGenome Clinical Sequencing Services
COL9A2 was added to Stickler syndromepanel. Sources: Radboud University Medical Center, Nijmegen