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 0.11

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • ClinGen
Phenotypes
  • Familial thoracic aortic aneurysm and aortic dissection
Amber COL1A2 in Rare genetic inflammatory skin disorders


Version 3.5
Latest signed off version: v3.0 (22 Mar 2023)

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
Red COL1A2 in Thoracic aortic aneurysm or dissection (GMS)


Version 3.8
Latest signed off version: v3.0 (22 Mar 2023)

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 1.127

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 4.52
Latest signed off version: v4.0 (22 Mar 2023)

Component of the following Super Panels:

  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    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, OMIM:225320
    • Ehlers-Danlos syndrome, type VIIB, OMIM:130060
    • Osteogenesis imperfecta, type II, OMIM:166210
    • Osteogenesis imperfecta, type III, OMIM:259420
    • Osteogenesis imperfecta, type IV, OMIM:166220
    Green COL1A2 in Ehlers Danlos syndrome with a likely monogenic cause

    Level 3: Connective tissues disorders
    Level 2: Rheumatological disorders
    Version 3.11
    Latest signed off version: v3.0 (22 Mar 2023)

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert list
    • Illumina TruGenome Clinical Sequencing Services
    • Expert Review Green
    • Radboud University Medical Center, Nijmegen
    • Emory Genetics Laboratory
    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 3.136
    Latest signed off version: v3.0 (22 Mar 2023)

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • NHS GMS
    • 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 4.4
    Latest signed off version: v4.0 (22 Mar 2023)

    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 - microarray and sequencing

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 5.477
    Latest signed off version: v5.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • review Not set
    Sources
    • Victorian Clinical Genetics Services
    Green COL1A2 in Severe Paediatric Disorders


    Version 1.182

    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