COL9A2

Green COL9A2 in Multiple Epiphyseal Dysplasia

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 1.6

Sources

• Expert Review Green
• Expert
• Radboud University Medical Center, Nijmegen
• Emory Genetics Laboratory
• Illumina TruGenome Clinical Sequencing Services

Phenotypes

• Epiphyseal dysplasia, multiple, 2, OMIM:600204

Red COL9A2 in ClinGen_Familial thoracic aortic aneurysm and aortic dissection

Version 0.11

Sources

• Expert Review Red
• ClinGen

Phenotypes

• Familial thoracic aortic aneurysm and aortic dissection

Red COL9A2 in Glaucoma (developmental)

Level 3: Anterior segment abnormalities
Level 2: Ophthalmological disorders
Version 1.45

Sources

• NHS GMS
• Emory Genetics Laboratory

Phenotypes

• Eye Disorders

Green COL9A2 in Stickler syndrome

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 4.4
Latest signed off version: v4.0 (22 Mar 2023)

Sources

• Expert Review Green
• Emory Genetics Laboratory
• Illumina TruGenome Clinical Sequencing Services
• Radboud University Medical Center, Nijmegen

Phenotypes

• Stickler syndrome, type V, OMIM:614284

Red COL9A2 in Thoracic aortic aneurysm or dissection (GMS)

Version 3.11
Latest signed off version: v3.0 (22 Mar 2023)

Sources

• Expert Review Red
• South West GLH
• South West GLH

Red COL9A2 in Thoracic aortic aneurysm or dissection

Level 3: Connective tissue disorders and aortopathies
Level 2: Cardiovascular disorders
Version 1.127

Sources

• South West GLH
• Expert list

Green COL9A2 in Skeletal dysplasia

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 4.56
Latest signed off version: v4.0 (22 Mar 2023)

Component of the following Super Panels:

Sources

• NHS GMS
• Expert Review Green
• Radboud University Medical Center, Nijmegen
• Illumina TruGenome Clinical Sequencing Services
• Emory Genetics Laboratory

Phenotypes

• Stickler syndrome, type V, OMIM:614284
• Epiphyseal dysplasia, multiple, 2, OMIM:600204

No list COL9A2 in Ehlers Danlos syndrome with a likely monogenic cause

Level 3: Connective tissues disorders
Level 2: Rheumatological disorders
Version 3.12
Latest signed off version: v3.0 (22 Mar 2023)

Sources

• Expert Review Removed
• NHS GMS
• Emory Genetics Laboratory
• Illumina TruGenome Clinical Sequencing Services
• Radboud University Medical Center, Nijmegen
• Expert list

Phenotypes

• Stickler syndrome, type V, (AR), 614284
• Epiphyseal dysplasia, multiple, 2, (AD), 600204
• Connective Tissue Disorders
• Sticklers high myopia, vitreoretinal degeneration, retinal detachment, and mild to moderate sensorineural hearing loss. Multiple epiphyseal dysplasia characterized by joint pain and stiffness, mild short stature, and degenerative joint disease.

Tags

• curated_removed

Green COL9A2 in Fetal anomalies

Version 3.155
Latest signed off version: v3.0 (22 Mar 2023)

Sources

• PAGE DD-Gene2Phenotype
• Expert Review Green

Phenotypes

• MULTIPLE EPIPHYSEAL DYSPLASIA TYPE 2
• STICKLER SYNDROME, TYPE V

No list COL9A2 in Osteogenesis imperfecta

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 4.5
Latest signed off version: v4.0 (22 Mar 2023)

Sources

• Expert Review Removed
• Emory Genetics Laboratory

Phenotypes

• Disproportionate Short Stature

Tags

• curated_removed

Green COL9A2 in DDG2P

Version 3.87
Latest signed off version: v3.1 (22 Mar 2023)

Component of the following Super Panels:

Sources

• DD-Gene2Phenotype
• Expert Review Green

Phenotypes

• MULTIPLE EPIPHYSEAL DYSPLASIA TYPE 2 600204
• STICKLER SYNDROME, TYPE V 614284

Green COL9A2 in Monogenic hearing loss

Level 3: Non-syndromic hearing loss
Level 2: Hearing and ear disorders
Version 4.38
Latest signed off version: v4.0 (22 Mar 2023)

Component of the following Super Panels:

Sources

• Expert Review Green
• Expert
• Radboud University Medical Center, Nijmegen

Phenotypes

• Stickler syndrome, type V, OMIM:614284

Amber COL9A2 in Clefting

Level 3: Dysmorphic disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 4.108
Latest signed off version: v4.0 (22 Mar 2023)

Component of the following Super Panels:

Sources

• Victorian Clinical Genetics Services
• Expert Review Amber
• Illumina TruGenome Clinical Sequencing Services
• Radboud University Medical Center, Nijmegen
• Emory Genetics Laboratory
• UKGTN

Phenotypes

• Stickler syndrome, type V, OMIM:614284

Red COL9A2 in Intellectual disability - microarray and sequencing

Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 5.532
Latest signed off version: v5.0 (22 Mar 2023)

Component of the following Super Panels:

Sources

• Expert Review Red
• BRIDGE study SPEED NEURO Tier1 Gene

Phenotypes

• Stickler syndrome, type V, OMIM:614284
• Epiphyseal dysplasia, multiple, 2, OMIM:600204

Green COL9A2 in Retinal disorders

Level 3: Posterior segment abnormalities
Level 2: Ophthalmological disorders
Version 4.89
Latest signed off version: v4.0 (22 Mar 2023)

Sources

• Expert Review Green
• NHS GMS

Phenotypes

• Stickler syndrome, type V, OMIM:614284

Red COL9A2 in Structural eye disease

Version 3.77
Latest signed off version: v3.0 (22 Mar 2023)

Sources

• NHS GMS
• Expert Review Red

Phenotypes

• Stickler syndrome, type V, OMIM:614284

Green COL9A2 in Severe Paediatric Disorders

Version 1.184

Sources

• Next Generation Children Project
• Expert Review Green
• Expert list

Phenotypes

• ?Stickler syndrome, type V, 614284
• Epiphyseal dysplasia, multiple, 2, 600204