COL4A5

collagen type IV alpha 5 chain
OMIM: 303630, Gene2Phenotype

10 panels

Panel Reviews Mode of inheritance Details
10 panels

Red COL4A5 in ClinGen_Familial thoracic aortic aneurysm and aortic dissection


Version 0.11

review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • ClinGen
  • Expert Review Red
Phenotypes
  • Familial thoracic aortic aneurysm and aortic dissection

Amber COL4A5 in Rare genetic inflammatory skin disorders


Version 1.54
Latest signed off version: v1.6 (15 Oct 2020)

review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Amber

Red COL4A5 in Cystic kidney disease

Level 3: Structural renal and urinary tract disease
Level 2: Renal and urinary tract disorders
Version 2.53
Latest signed off version: v2.2 (19 Feb 2020)

Component of the following Super Panels:

  • Cystic renal disease
  • Renal superpanel - broad
  • Renal superpanel - narrow
  • review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
    Sources
    • Expert Review Red
    • Other
    Phenotypes
    • cystic kidney disease MONDO:0002473

    Green COL4A5 in Unexplained kidney failure in young people

    Level 3: Disorders of function
    Level 2: Renal and urinary tract disorders
    Version 1.113

    Component of the following Super Panels:

  • Renal superpanel - broad
  • review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
    Sources
    • Expert Review Green
    • Eligibility statement prior genetic testing
    • UKGTN
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Alport syndrome 301050

    Green COL4A5 in Unexplained paediatric onset end-stage renal disease


    Version 1.37
    Latest signed off version: v1.2 (4 Mar 2020)

    Component of the following Super Panels:

  • Renal superpanel - broad
  • review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
    Sources
    • Expert Review Green
    Phenotypes
    • Alport syndrome 301050

    Green COL4A5 in Hearing loss

    Level 3: Non-syndromic hearing loss
    Level 2: Hearing and ear disorders
    Version 2.247
    Latest signed off version: v2.5 (13 Feb 2020)

    review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
    Sources
    • Expert Review Green
    • Expert
    • Radboud University Medical Center, Nijmegen
    • Emory Genetics Laboratory
    Phenotypes
    • #301050:Alport syndrome
    • diffuse leiomyomatosis with Alport syndrome = contiguous gene syndrome with COL4A6
    • hearing loss

    Green COL4A5 in Haematuria

    Level 3: Syndromes with prominent renal abnormalities
    Level 2: Renal and urinary tract disorders
    Version 2.11
    Latest signed off version: v2.4 (15 Oct 2020)

    Component of the following Super Panels:

  • Renal superpanel - broad
  • Renal superpanel - narrow
  • review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
    Sources
    • NHS GMS
    • Expert Review Green
    • Eligibility statement prior genetic testing
    • UKGTN
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Alport syndrome 1, X-linked OMIM:301050

    Green COL4A5 in Proteinuric renal disease

    Level 3: Syndromes with prominent renal abnormalities
    Level 2: Renal and urinary tract disorders
    Version 2.77
    Latest signed off version: v2.32 (16 Oct 2020)

    Component of the following Super Panels:

  • Renal superpanel - broad
  • Renal superpanel - narrow
  • review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
    Sources
    • NHS GMS
    • Expert Review Green
    • Eligibility statement prior genetic testing
    Phenotypes
    • Alports
    • Familial benign haematuria
    • Alport syndrome
    • proteinuria
    • haematuria
    • FSGS

    Green COL4A5 in Groopman et al 2019 - Genes with diagnostic variants


    Version 0.8

    review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
    Sources
    • Expert Review Green
    • Expert review green
    • Literature
    Phenotypes
    • MIM 301050
    • Congenital or cystic renal disease
    • Nephropathy of unknown origin
    • Alport syndrome, X-linked
    • Glomerulopathy

    Green COL4A5 in Severe Paediatric Disorders


    Version 1.127

    review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Alport syndrome 1, X-linked, 301050