COL1A1

collagen type I alpha 1 chain
OMIM: 120150, Gene2Phenotype

14 panels

Panel Reviews Mode of inheritance Details
14 panels
Red COL1A1 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 COL1A1 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
Green COL1A1 in Inherited bleeding disorders

Level 3: Haemostasis disorders
Level 2: Haematological and immunological disorders
Version 1.175

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • BRIDGE Study Tier 1 Gene
Phenotypes
  • Bleeding disorder
  • Ehlers-Danlos syndrome
  • Caffey
  • Osteogenesis imperfecta type 1
  • Osteogenesis imperfecta type 2
  • Osteogenesis imperfecta type 3
  • Osteogenesis imperfecta type 4
Red COL1A1 in Thoracic aortic aneurysm or dissection (GMS)


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

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • South West GLH
  • London South GLH
  • South West GLH
  • London South GLH
Phenotypes
  • Ehlers-Danlos syndrome, classic, 130000
  • Ehlers-Danlos syndrome, type VIIA, 130060
Green COL1A1 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
  • London South GLH
  • Expert Review Green
  • Expert list
Phenotypes
  • Ehlers-Danlos syndrome, classic, 130000
  • Ehlers-Danlos syndrome, type VIIA, 130060
Green COL1A1 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
    • Emory Genetics Laboratory
    • Illumina TruGenome Clinical Sequencing Services
    • UKGTN
    • Expert
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Osteogenesis imperfecta, type I 166200
    • Caffey disease 114000
    • Osteogenesis imperfecta, type III 259420
    • Osteogenesis imperfecta, type II 166210
    • Ehlers-Danlos syndrome, type VIIA 130060
    • Ehlers-Danlos syndrome, classic 130000
    • Osteogenesis imperfecta, type IV 166220
    Amber COL1A1 in Bleeding and platelet disorders


    Version 3.7
    Latest signed off version: v3.0 (22 Mar 2023)

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Amber
    • NHS GMS
    • Wessex and West Midlands GLH
    Phenotypes
    • 114000 Caffey disease
    • 130060 Ehlers-Danlos syndrome, arthrochalasia type, 1
    Green COL1A1 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 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • NHS GMS
    • Expert list
    • Expert Review Green
    • Radboud University Medical Center, Nijmegen
    • Illumina TruGenome Clinical Sequencing Services
    • Emory Genetics Laboratory
    Phenotypes
    • Ehlers-Danlos syndrome, arthrochalasia type, 1, OMIM:130060
    • Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1, OMIM:619115
    Green COL1A1 in Fetal anomalies


    Version 3.136
    Latest signed off version: v3.0 (22 Mar 2023)

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • PAGE DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • COL1A1/2-RELATED OSTEOGENESIS IMPERFECTA
    • EHLERS-DANLOS SYNDROME, CLASSIC TYPE, COL1A1-RELATED
    • OSTEOGENESIS IMPERFECTA TYPE III
    • EHLERS-DANLOS SYNDROME TYPE VIIA
    • OSTEOGENESIS IMPERFECTA TYPE IIA
    • CAFFEY DISEASE
    • OSTEOGENESIS IMPERFECTA TYPE I
    Green COL1A1 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
    • Osteogenesis imperfecta, type I, 166200
    • OI type II, 166210
    • OI type III, 259420
    • OI type IV, 166220
    • Ehlers-Danlos syndrome, type I, 130000
    • Ehlers-Danlos syndrome, type VIIA, 130060
    • {Osteoporosis}, 166710
    • Caffey disease, 114000
    • Osteogenesis Imperfecta, Dominant
    • Osteogenesis Imperfecta and Decreased Bone Density
    • skeletal dysplasias
    • Osteogenesis Imperfecta, Type IV
    • Osteogenesis Imperfecta, Type II
    • Osteogenesis Imperfecta, Type III
    • Disproportionate Short Stature
    Green COL1A1 in DDG2P


    Version 3.79
    Latest signed off version: v3.1 (22 Mar 2023)

    Component of the following Super Panels:

  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • CAFFEY DISEASE 114000
    • OSTEOGENESIS IMPERFECTA TYPE IIA 166210
    • OSTEOGENESIS IMPERFECTA TYPE III 259420
    • COL1A1/2-RELATED OSTEOGENESIS IMPERFECTA 166210
    • EHLERS-DANLOS SYNDROME, CLASSIC TYPE, COL1A1-RELATED 130060
    • OSTEOGENESIS IMPERFECTA TYPE I 166200
    • EHLERS-DANLOS SYNDROME TYPE VIIA 319158
    Red COL1A1 in Growth failure in early childhood


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

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert list
    Phenotypes
    • OI
    • Osteogenesis imperfecta, type II, 166210
    • Osteogenesis imperfecta, type III, 259420
    • Osteogenesis imperfecta, type I, 166200
    • Osteogenesis imperfecta, type IV, 166220
    Red COL1A1 in Intellectual disability - microarray and sequencing

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 5.474
    Latest signed off version: v5.0 (22 Mar 2023)

    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
    • Osteogenesis imperfecta, type I, 166200
    • OI type II, 166210
    • OI type III, 259420
    • OI type IV, 166220
    • Ehlers-Danlos syndrome, type I, 130000
    • Ehlers-Danlos syndrome, type VIIA, 130060
    • {Osteoporosis}, 166710
    • Caffey disease, 114000
    • [Bone mineral density variation QTL], 166710
    Green COL1A1 in Severe Paediatric Disorders


    Version 1.182

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Ehlers-Danlos syndrome, arthrochalasia type, 1, 130060
    • Osteogenesis imperfecta, type I, 166200
    • Osteogenesis imperfecta, type III, 259420
    • Caffey disease, 114000
    • Osteogenesis imperfecta, type II, 166210
    • Osteogenesis imperfecta, type IV, 166220