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 0.64

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 1.42

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 1.55

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

Green COL2A1 in Limb disorders


Version 2.79
Latest signed off version: v2.2 (13 Feb 2020)

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 Cataracts

    Level 3: Anterior segment abnormalities
    Level 2: Ophthalmological disorders
    Version 2.110
    Latest signed off version: v2.76 (5 Aug 2021)

    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 1.172

    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 2.27
    Latest signed off version: v2.2 (19 Feb 2020)

    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 and dissection


    Version 1.23
    Latest signed off version: v1.2 (19 Feb 2020)

    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 1.123

    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 2.208
    Latest signed off version: v2.2 (13 Feb 2020)

    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
    • UKGTN
    • Illumina TruGenome Clinical Sequencing Services
    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 syndromes

    Level 3: Connective tissues disorders
    Level 2: Rheumatological disorders
    Version 2.65
    Latest signed off version: v2.3 (4 Mar 2020)

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Removed
    • NHS GMS
    • Radboud University Medical Center, Nijmegen
    • UKGTN
    • Illumina TruGenome Clinical Sequencing Services
    • Emory Genetics Laboratory
    • Expert list
    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 1.900
    Latest signed off version: v1.92 (21 Aug 2020)

    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 2.48
    Latest signed off version: v2.2 (13 Feb 2020)

    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 2.76
    Latest signed off version: v2.2 (13 Feb 2020)

    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
    Tags
    • watchlist

    Green COL2A1 in Hearing loss

    Level 3: Non-syndromic hearing loss
    Level 2: Hearing and ear disorders
    Version 2.247
    Latest signed off version: v2.5 (13 Feb 2020)

    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 2.70
    Latest signed off version: v2.2 (4 Mar 2020)

    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 3.1659
    Latest signed off version: v3.2 (13 Feb 2020)

    Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • 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

    Red COL2A1 in Retinal disorders

    Level 3: Posterior segment abnormalities
    Level 2: Ophthalmological disorders
    Version 2.285
    Latest signed off version: v2.195 (5 Aug 2021)

    review Not set
    Sources
    • NHS GMS
    • Expert Review Red
    Phenotypes
    • Eye Disorders
    Tags
    • Q3_22_rating
    • Q3_22_NHS_review
    • Q3_22_expert_review

    Amber COL2A1 in Structural eye disease


    Version 1.132
    Latest signed off version: v1.3 (4 Mar 2020)

    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 1.127

    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