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 1.2

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 1.9

review Not set
Sources
  • Emory Genetics Laboratory
Phenotypes
  • Eye Disorders

No list COL2A1 in Fetal hydrops

Level 3: Fetal disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.23

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

Green COL2A1 in Limb disorders


Version 2.18
Signed off v.2.2 on 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 2.17
    Signed off v.2.2 on 19 Feb 2020

    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 1.156

    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 2.3
    Signed off v.2.2 on 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, 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

    Red COL2A1 in Thoracic aortic aneurysm and dissection


    Version 1.3
    Signed off v.1.2 on 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 1.112

    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 2.32
    Signed off v.2.2 on 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
    • 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 syndromes

    Level 3: Connective tissues disorders
    Level 2: Rheumatological disorders
    Version 2.4
    Signed off v.2.3 on 4 Mar 2020

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Removed
    • NHS GMS
    • UKGTN
    • Radboud University Medical Center, Nijmegen
    • 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

    Green COL2A1 in Fetal anomalies


    Version 1.115
    Signed off v.1.92 on 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 2.10
    Signed off v.2.2 on 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 2.12
    Signed off v.2.2 on 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

    Amber COL2A1 in Hearing loss

    Level 3: Non-syndromic hearing loss
    Level 2: Hearing and ear disorders
    Version 2.122
    Signed off v.2.5 on 13 Feb 2020

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Amber
    • Expert
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Stickler syndrome, type I, 108300
    Tags
    • for-review

    Green COL2A1 in Clefting

    Level 3: Dysmorphic disorders
    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 2.8
    Signed off v.2.2 on 4 Mar 2020

    Component of the following Super Panels:

  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    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 3.568
    Signed off v.3.2 on 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 2.21
    Signed off v.2.7 on 25 Feb 2020

    review Not set
    Sources
    • NHS GMS
    • Expert Review Red
    Phenotypes
    • Eye Disorders

    Amber COL2A1 in Structural eye disease


    Version 1.15
    Signed off v.1.3 on 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 1.20

    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