Clefting
Gene: COL9A2
None of the affected members described in PMID 21671392 have cleft. Would leave it as amberCreated: 31 May 2017, 2:29 p.m.
Comment on list classification: The literature (PMID:21671392) indicates there is a report for only one family with Stickler, however it is a confirmed DD gene. This will be reviewed again on the Stickler panel.
Created: 9 Feb 2017, 3:04 p.m.
Comment on publications: Autosomal recessive Stickler syndrome type V is a rare type of Stickler syndrome, and to date has only been found in one family, caused by a mutation in the COL9A1 geneCreated: 24 Jan 2017, 3:07 p.m.
Comment on phenotypes: Added phenotypes from reviewer and OMIM.Created: 24 Jan 2017, 3:06 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Stickler syndrome
Variants in this GENE are reported as part of current diagnostic practice
Phenotypes for gene: COL9A2 were changed from ?Stickler syndrome type V, 614284; Orofacial Clefting with skeletal features; Stickler syndrome; Cleft palate to Stickler syndrome, type V, OMIM:614284
Victorian Clinical Genetics Services was added to COL9A2. Panel: Clefting Phenotypes for gene COL9A2 were set to ?Stickler syndrome type V, 614284, Orofacial Clefting with skeletal features, Stickler syndrome, Cleft palate
Panel reviews were assessed, and panel was revised according to reviews and further curation 31st May 2017
This gene has been classified as Amber List (Moderate Evidence).
Phenotypes for gene COL9A2 were set to ?Stickler syndrome type V, 614284;Orofacial Clefting with skeletal features;Stickler syndrome
COL9A2 was added to Cleftingpanel. Sources: Illumina TruGenome Clinical Sequencing Services
COL9A2 was added to Cleftingpanel. Sources: Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory
Phenotypes for gene COL9A2 were set to Orofacial Clefting with skeletal features?Stickler syndrome type V, 614284;Stickler syndrome
Publications for COL9A2 were set to 21671392
Publications for COL9A2 were set to 21671392
Phenotypes for COL9A2 were set to Orofacial Clefting with skeletal features ?Stickler syndrome type V, 614284 Stickler syndrome
COL9A2 was added to Cleftingpanel. Sources: UKGTN
COL9A2 was created by oniblock