COL1A2

collagen type I alpha 2 chain
OMIM: 120160, Gene2Phenotype

10 panels

Panel Reviews Mode of inheritance Details
10 panels

Red COL1A2 in ClinGen_Familial thoracic aortic aneurysm and aortic dissection


Version 0.10

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • ClinGen
  • Expert Review Red
Phenotypes
  • Familial thoracic aortic aneurysm and aortic dissection

Amber COL1A2 in Rare genetic inflammatory skin disorders


Version 1.40
Latest signed off version: v1.6 (15 Oct 2020)

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber

Red COL1A2 in Thoracic aortic aneurysm and dissection


Version 1.18
Latest signed off version: v1.2 (19 Feb 2020)

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • South West GLH
  • London South GLH
  • South West GLH
  • London South GLH
Phenotypes
  • Ehlers-Danlos syndrome, cardiac valvular form
  • Ehlers-Danlos syndrome, type VIIB

Green COL1A2 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, imprinted status unknown
Sources
  • South West GLH
  • London South GLH
  • Expert Review Green
  • Expert list
Phenotypes
  • Ehlers-Danlos syndrome, cardiac valvular form
  • Ehlers-Danlos syndrome, type VIIB

Green COL1A2 in Skeletal dysplasia

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 2.137
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
    • Eligibility statement prior genetic testing
    • Illumina TruGenome Clinical Sequencing Services
    • Radboud University Medical Center, Nijmegen
    • Emory Genetics Laboratory
    • UKGTN
    • Expert
    Phenotypes
    • Ehlers-Danlos syndrome, cardiac valvular form 225320
    • Ehlers-Danlos syndrome, type VIIB 130060
    • Osteogenesis imperfecta, type II 166210
    • Osteogenesis imperfecta, type III 259420
    • Osteogenesis imperfecta, type IV 166220

    Green COL1A2 in Ehlers Danlos syndromes

    Level 3: Connective tissues disorders
    Level 2: Rheumatological disorders
    Version 2.63
    Latest signed off version: v2.3 (4 Mar 2020)

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Emory Genetics Laboratory
    • Expert list
    • Illumina TruGenome Clinical Sequencing Services
    • Expert Review Green
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2, OMIM:619120
    • Ehlers-Danlos syndrome, arthrochalasia type, 2, OMIM:617821
    • Ehlers-Danlos syndrome, cardiac valvular type, OMIM:225320

    Green COL1A2 in Fetal anomalies


    Version 1.728
    Latest signed off version: v1.92 (21 Aug 2020)

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • PAGE Additional Gene List
    • Expert Review Green
    Phenotypes
    • Ehlers-Danlos syndrome
    • Osteogenesis imperfecta

    Green COL1A2 in Osteogenesis imperfecta

    Level 3: Skeletal dysplasias
    Level 2: Skeletal disorders
    Version 2.37
    Latest signed off version: v2.2 (13 Feb 2020)

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • NHS GMS
    • Expert Review Green
    • Eligibility statement prior genetic testing
    • UKGTN
    • Emory Genetics Laboratory
    • Illumina TruGenome Clinical Sequencing Services
    • Radboud University Medical Center, Nijmegen
    • Expert
    Phenotypes
    • Ehlers-Danlos syndrome, type VIIB, 130060
    • Osteogenesis imperfecta, type IV, 166220
    • Osteogenesis imperfecta, type III, 259420
    • Osteogenesis imperfecta, type II, 166210
    • {Osteoporosis, postmenopausal}, 166710
    • Ehlers-Danlos syndrome, cardi
    • Osteogenesis Imperfecta, Dominant
    • Osteogenesis Imperfecta and Decreased Bone Density
    • skeletal dysplasias
    • Osteogenesis Imperfecta, Type IV
    • Osteogenesis Imperfecta, Type II
    • Osteogenesis Imperfecta, Type III

    Red COL1A2 in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.1367
    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 Not set
    Sources
    • Victorian Clinical Genetics Services

    Green COL1A2 in Severe Paediatric Disorders


    Version 1.84

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Osteogenesis imperfecta, type III, 259420
    • Ehlers-Danlos syndrome, cardiac valvular type, 225320
    • Osteogenesis imperfecta, type II, 166210
    • Ehlers-Danlos syndrome, arthrochalasia type, 2, 617821
    • Osteogenesis imperfecta, type IV, 166220