1. Genes and Genomic Entities
  2. COL5A1

COL5A1

collagen type V alpha 1 chain
OMIM: 120215, Gene2Phenotype

13 panels

Panel Reviews Mode of inheritance Details
13 panels
Green COL5A1 in Cerebral vascular malformations


Level 2: Neurology
Version 4.10
Latest signed off version: v4.0 (30 Apr 2025)

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • NHS GMS
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Ehlers-Danlos syndrome, classic type, 1, OMIM:130000
  • Fibromuscular dysplasia, multifocal, OMIM:619329
Red COL5A1 in Pneumothorax - familial


Level 2: Respiratory
Version 3.6
Latest signed off version: v3.0 (22 Mar 2023)

review Not set
Sources
  • NHS GMS
No list COL5A1 in Limb disorders


Level 2: Musculoskeletal
Version 7.20
Latest signed off version: v7.0 (30 Apr 2025)

Component of the following Super Panels:

  • Paediatric disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • NHS GMS
    Phenotypes
    • EDS
    Tags
    • curated_removed
    Red COL5A1 in Rare genetic inflammatory skin disorders


    Level 2: Dermatology
    Version 4.16
    Latest signed off version: v4.0 (30 Apr 2025)

    		review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Red
    Green COL5A1 in Inherited bleeding disorders

    Level 3: Haemostasis disorders
    Level 2: Haematological and immunological disorders
    Version 1.182

    		review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • BRIDGE Study Tier 1 Gene
    Phenotypes
    • Bleeding disorder
    • Ehlers-Danlos syndrome, classic type
    Green COL5A1 in Thoracic aortic aneurysm or dissection (GMS)


    Level 2: Cardiology
    Version 4.5
    Latest signed off version: v4.0 (30 Apr 2025)

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • NHS GMS
    • Expert Review Green
    • South West GLH
    • London South GLH
    • South West GLH
    • London South GLH
    Phenotypes
    • Ehlers-Danlos syndrome, classic type, OMIM:130000
    • Fibromuscular dysplasia, multifocal, OMIM:619329
    Green COL5A1 in Thoracic aortic aneurysm or dissection

    Level 3: Connective tissue disorders and aortopathies
    Level 2: Cardiovascular disorders
    Version 1.129

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • South West GLH
    • London South GLH
    • Expert Review Green
    • Expert list
    • Emory Genetics Laboratory
    Phenotypes
    • Ehlers-Danlos syndrome, classic type, OMIM:130000
    • Fibromuscular dysplasia, multifocal, OMIM:619329
    Red COL5A1 in Skeletal dysplasia


    Level 2: Musculoskeletal
    Version 8.34
    Latest signed off version: v8.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review Not set
    Sources
    • Expert
    Amber COL5A1 in Bleeding and platelet disorders


    Level 2: Haematology
    Version 4.6
    Latest signed off version: v4.0 (30 Apr 2025)

    		review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Amber
    • NHS GMS
    • Wessex and West Midlands GLH
    Phenotypes
    • 130000 Ehlers-Danlos syndrome, classic type, 1
    Green COL5A1 in Ehlers Danlos syndrome with a likely monogenic cause


    Level 2: Musculoskeletal
    Version 4.6
    Latest signed off version: v4.0 (30 Apr 2025)

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • NHS GMS
    • Eligibility statement prior genetic testing
    • Emory Genetics Laboratory
    • UKGTN
    • Radboud University Medical Center, Nijmegen
    • Illumina TruGenome Clinical Sequencing Services
    • Expert Review Green
    • Expert list
    Phenotypes
    • Ehlers-Danlos syndrome, classic type, 1, OMIM:130000
    Red COL5A1 in Fetal anomalies


    Level 2: Fetal (including NIPD)
    Version 6.140
    Latest signed off version: v6.0 (30 Apr 2025)

    		review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Red
    • PAGE Additional Gene List
    Phenotypes
    • Ehlers-Danlos syndrome, classic type 130000
    Red COL5A1 in Osteogenesis imperfecta


    Level 2: Musculoskeletal
    Version 5.4
    Latest signed off version: v5.0 (30 Apr 2025)

    		review Not set
    Sources
    • Expert
    Amber COL5A1 in Paediatric disorders - additional genes


    Level 2: Developmental disorders
    Version 7.31
    Latest signed off version: v7.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Amber
    • Expert Review
    Phenotypes
    • Ehlers-Danlos syndrome, classic type, 1, OMIM:130000
    • Ehlers-Danlos syndrome, classic type, 1, MONDO:0019567