COL9A2

collagen type IX alpha 2 chain
OMIM: 120260, Gene2Phenotype

17 panels

Panel Reviews Mode of inheritance Details
17 panels
Green COL9A2 in Multiple Epiphyseal Dysplasia

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

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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

review Not set
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)

review BIALLELIC, autosomal or pseudoautosomal
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)

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
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

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • South West GLH
  • Expert list
Green COL9A2 in Skeletal dysplasia

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 5.3
Latest signed off version: v5.0 (1 May 2024)

Component of the following Super Panels:

  • Paediatric disorders
  • review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    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)

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    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 4.1
    Latest signed off version: v4.0 (1 May 2024)

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    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)

    review Not set
    Sources
    • Expert Review Removed
    • Emory Genetics Laboratory
    Phenotypes
    • Disproportionate Short Stature
    Tags
    • curated_removed
    Green COL9A2 in DDG2P


    Version 4.3
    Latest signed off version: v4.0 (1 May 2024)

    Component of the following Super Panels:

  • Paediatric disorders
  • review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    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 4.41
    Latest signed off version: v4.39 (1 May 2024)

    Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    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 5.3
    Latest signed off version: v5.0 (1 May 2024)

    Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    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

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 6.13
    Latest signed off version: v6.0 (1 May 2024)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    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 5.6
    Latest signed off version: v5.0 (1 May 2024)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    Phenotypes
    • Stickler syndrome, type V, OMIM:614284
    Red COL9A2 in Structural eye disease


    Version 3.79
    Latest signed off version: v3.0 (22 Mar 2023)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Red
    Phenotypes
    • Stickler syndrome, type V, OMIM:614284
    Green COL9A2 in Severe Paediatric Disorders


    Version 1.184

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • ?Stickler syndrome, type V, 614284
    • Epiphyseal dysplasia, multiple, 2, 600204