1. Genes and Genomic Entities
  2. COL2A1

COL2A1

collagen type II alpha 1 chain
OMIM: 120140, Gene2Phenotype

21 panels

Panel Reviews Mode of inheritance Details
21 panels
Red COL2A1 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 Red
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
Phenotypes
  • Multiple epiphyseal dysplasiais
  • 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
  • Spondyloperipheral dysplasia, 271700
  • SED, Namaqualand type
  • Osteoarthritis with mild chondrodysplasia, 604864
  • Vitreoretinopathy with phalangeal epiphyseal dysplasia
  • Platyspondylic skeletal dysplasia, Torrance type, 151210
  • Otospondylomegaepiphyseal dysplasia, 215150
  • Avascular necrosis of the femoral head, 608805
  • Legg-Calve-Perthes disease, 150600
  • Stickler sydrome, type I, nonsyndromic ocular, 609508
  • Czech dysplasia, 609162
Amber COL2A1 in ClinGen Gene Validity Curations


Version 0.65

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • ClinGen
  • Expert Review Amber
  • Other
Phenotypes
  • Spondyloepiphyseal dysplasia (Stanescu type)
  • OMIM 616583
Red COL2A1 in Glaucoma (developmental)

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

review Not set
Sources
  • Expert Review Amber
  • NHS GMS
  • Emory Genetics Laboratory
Phenotypes
  • Eye Disorders
No list COL2A1 in Fetal hydrops

Level 3: Fetal disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.64

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
Phenotypes
  • Achondrogenesis, type II or hypochondrogenesis, MIM#200610
Green COL2A1 in Limb disorders


Version 5.4
Latest signed off version: v5.0 (1 May 2024)

Component of the following Super Panels:

  • Paediatric disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • Other
    Phenotypes
    • Platyspondylic skeletal dysplasia, Torrance type 151210
    • Achondrogenesis, type II or hypochondrogenesis 200610
    • Spondyloperipheral dysplasia 271700
    Green COL2A1 in Bilateral congenital or childhood onset cataracts

    Level 3: Anterior segment abnormalities
    Level 2: Ophthalmological disorders
    Version 4.14
    Latest signed off version: v4.0 (22 Mar 2023)

    		review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • UKGTN
    Phenotypes
    • Confirmed DD gene for Stickler syndrome type I non-syndromic ocular
    • Stickler syndrome
    Red COL2A1 in Inherited bleeding disorders

    Level 3: Haemostasis disorders
    Level 2: Haematological and immunological disorders
    Version 1.178

    		review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Other
    Phenotypes
    • Avascular necrosis of the femoral head
    • feature of hereditary thrombophilia
    • Legg-Calve-Perthes disease
    Green COL2A1 in Stickler syndrome

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

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Eligibility statement prior genetic testing
    • Radboud University Medical Center, Nijmegen
    • UKGTN
    • Emory Genetics Laboratory
    • Illumina TruGenome Clinical Sequencing Services
    Phenotypes
    • Stickler syndrome, type I, OMIM:108300
    Red COL2A1 in Thoracic aortic aneurysm or dissection (GMS)


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

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Red
    • South West GLH
    • South West GLH
    Red COL2A1 in Thoracic aortic aneurysm or dissection

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

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • South West GLH
    • Expert list
    Green COL2A1 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
    • UKGTN
    • Illumina TruGenome Clinical Sequencing Services
    • UKGTN
    Phenotypes
    • Epiphyseal dysplasia, multiple, with myopia and deafness 132450
    • Spondyloepiphyseal dysplasia, Stanescu type 616583
    • Stickler sydrome, type I, nonsyndromic ocular 609508
    • Achondrogenesis, type II or hypochondrogenesis 200610
    • Kniest dysplasia 156550
    • Legg-Calve-Perthes disease 150600
    • Otospondylomegaepiphyseal dysplasia 215150
    • Stickler syndrome, type I 108300
    • SMED Strudwick type 184250
    • Spondyloperipheral dysplasia 271700
    • Platyspondylic skeletal dysplasia, Torrance type 151210
    • Czech dysplasia 609162
    • SED congenita 183900
    • Osteoarthritis with mild chondrodysplasia 604864
    • Avascular necrosis of the femoral head 608805
    No list COL2A1 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 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Removed
    • NHS GMS
    • Radboud University Medical Center, Nijmegen
    • UKGTN
    • Illumina TruGenome Clinical Sequencing Services
    • Expert list
    • Emory Genetics Laboratory
    Phenotypes
    • Stickler syndrome, type I, 108300
    • Connective Tissue Disorders
    • Kniest dysplasia, 156550
    • Achondrogenesis, type II or hypochondrogenesis, 200610
    • SED congenita, 183900
    • SMED Strudwick type, 184250
    • Epiphyseal dysplasia, multiple, with myopia and deafness, 132450
    Tags
    • curated_removed
    Green COL2A1 in Fetal anomalies


    Version 4.1
    Latest signed off version: v4.0 (1 May 2024)

    		review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • PAGE DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • SPONDYLOEPIMETAPHYSEAL DYSPLASIA STRUDWICK TYPE
    • SPONDYLOPERIPHERAL DYSPLASIA
    • STICKLER SYNDROME TYPE 1 NON-SYNDROMIC OCULAR
    • PLATYSPONDYLIC LETHAL SKELETAL DYSPLASIA TORRANCE TYPE
    • ACHONDROGENESIS TYPE 2
    • RHEGMATOGENOUS RETINAL DETACHMENT AUTOSOMAL DOMINANT
    • SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA
    • KNIEST DYSPLASIA
    Red COL2A1 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 Red
    • Emory Genetics Laboratory
    • Radboud University Medical Center, Nijmegen
    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, 132450
    • Spondyloperipheral dysplasia, 271700
    • SED, Namaqualand type
    • Osteoarthritis with mild chondrodysplasia, 604864
    • Vitreoretinopathy with phalangeal epiphyseal dysplasia
    • Platyspondylic skeletal dysplasia, Torrance type, 151210
    • Otospondylomegaepiphyseal dysplasia, 215150
    • Avascular necrosis of the femoral head, 608805
    • Legg-Calve-Perthes disease, 150600
    • Stickler sydrome, type I, nonsyndromic ocular, 609508
    • Czech dysplasia, 609162
    • Disproportionate Short Stature
    Green COL2A1 in DDG2P


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

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • DD-Gene2Phenotype
    Phenotypes
    • ACHONDROGENESIS TYPE 2 200610
    • PLATYSPONDYLIC LETHAL SKELETAL DYSPLASIA TORRANCE TYPE 151210
    • SPONDYLOPERIPHERAL DYSPLASIA 271700
    • PRIMARY AVASCULAR NECROSIS OF FEMORAL HEAD 608805
    • SPONDYLOEPIMETAPHYSEAL DYSPLASIA STRUDWICK TYPE 184250
    • SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA 183900
    • RHEGMATOGENOUS RETINAL DETACHMENT AUTOSOMAL DOMINANT 609508
    • KNIEST DYSPLASIA 156550
    • STICKLER SYNDROME TYPE 1 NON-SYNDROMIC OCULAR 609508
    Green COL2A1 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 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • Expert
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Stickler syndrome, type I, OMIM:108300
    Green COL2A1 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 BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green
    • Eligibility statement prior genetic testing
    • UKGTN
    Phenotypes
    • STICKLER SYNDROME, TYPE I (STL1), 108300
    • Orofacial Clefting with skeletal features
    • Stickler Syndrome
    • Stickler syndrome (cleft palate,micrognathia,vireo-retinal anomalies, severe myopia, joint problems, hearing loss)
    • Stickler sydrome, type I, non syndromic ocular
    • STICKLER SYNDROME, VITREOUS TYPE 1
    • STICKLER SYNDROME, MEMBRANOUS VITREOUS TYPE
    • ARTHROOPHTHALMOPATHY, HEREDITARY PROGRESSIVE, AOM
    • STICKLER SYNDROME, TYPE I
    • STL1
    • Cleft palate
    Red COL2A1 in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 6.11
    Latest signed off version: v6.0 (1 May 2024)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Red
    • BRIDGE study SPEED NEURO Tier1 Gene
    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, 132450
    • Spondyloperipheral dysplasia, 271700
    • SED, Namaqualand type
    • Osteoarthritis with mild chondrodysplasia, 604864
    • Vitreoretinopathy with phalangeal epiphyseal dysplasia
    • Platyspondylic skeletal dysplasia, Torrance type, 151210
    • Otospondylomegaepiphyseal dysplasia, 215150
    • Avascular necrosis of the femoral head, 608805
    • Legg-Calve-Perthes disease, 150600
    • Stickler sydrome, type I, nonsyndromic ocular, 609508
    • Czech dysplasia, 609162
    Green COL2A1 in Retinal disorders

    Level 3: Posterior segment abnormalities
    Level 2: Ophthalmological disorders
    Version 5.4
    Latest signed off version: v5.0 (1 May 2024)

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • NHS GMS
    Phenotypes
    • Epiphyseal dysplasia, multiple, with myopia and deafness, OMIM:132450
    • Vitreoretinopathy with phalangeal epiphyseal dysplasia, OMIM:619248
    • Kniest dysplasia, OMIM:156550
    • SED congenita, OMIM:183900
    • Stickler syndrome, type I, OMIM:108300
    • Stickler syndrome, type I, nonsyndromic ocular, OMIM:609508
    Amber COL2A1 in Structural eye disease


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

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • NHS GMS
    Phenotypes
    • Epiphyseal dysplasia, multiple, with myopia and deafness
    • Eye Disorders
    • SED congenita
    • Kniest dysplasia, 156550
    • Stickler syndrome, type I, 108300
    • Stickler sydrome, type I, nonsyndromic ocular, 609508
    • Vitreoretinopathy with phalangeal epiphyseal dysplasia
    Green COL2A1 in Severe Paediatric Disorders


    Version 1.184

    		review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Achondrogenesis, type II or hypochondrogenesis, 200610
    • Spondyloperipheral dysplasia, 271700
    • SMED Strudwick type, 184250
    • Stickler sydrome, type I, nonsyndromic ocular, 609508
    • Vitreoretinopathy with phalangeal epiphyseal dysplasia
    • Kniest dysplasia, 156550
    • SED congenita, 183900
    • Czech dysplasia, 609162
    • Platyspondylic skeletal dysplasia, Torrance type, 151210
    • Epiphyseal dysplasia, multiple, with myopia and deafness, 132450
    • Spondyloepiphyseal dysplasia, Stanescu type, 616583
    • Osteoarthritis with mild chondrodysplasia, 604864
    • Legg-Calve-Perthes disease, 150600
    • Stickler syndrome, type I, 108300
    • Avascular necrosis of the femoral head, 608805