COL4A4

collagen type IV alpha 4 chain
OMIM: 120131, Gene2Phenotype

12 panels

Panel Reviews Mode of inheritance Details
12 panels

Amber COL4A4 in Rare genetic inflammatory skin disorders


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

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber

Amber COL4A4 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 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Amber
    • Other
    Phenotypes
    • Cystic kidney disease, MONDO:0002473

    Green COL4A4 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 BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • UKGTN
    • Radboud University Medical Center, Nijmegen
    • Eligibility statement prior genetic testing
    • Illumina TruGenome Clinical Sequencing Services
    Phenotypes
    • Alport syndrome 2, autosomal recessive, OMIM:203780
    • Hematuria,familial benign, OMIM:141200

    Green COL4A4 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 BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    Phenotypes
    • Alport syndrome 2, autosomal recessive, OMIM:203780
    • Hematuria,familial benign, OMIM:141200

    Red COL4A4 in Fetal anomalies


    Version 1.880
    Latest signed off version: v1.92 (21 Aug 2020)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • PAGE DD-Gene2Phenotype
    Phenotypes
    • ALPORT SYNDROME AUTOSOMAL RECESSIVE

    Green COL4A4 in DDG2P


    Version 2.76
    Latest signed off version: v2.2 (13 Feb 2020)

    Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • ALPORT SYNDROME AUTOSOMAL RECESSIVE 203780

    Red COL4A4 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 Not set
    Sources
    • Expert
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Alport syndrome 2, autosomal recessive, OMIM:203780
    • Hematuria,familial benign, OMIM:141200

    Green COL4A4 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 BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    • Eligibility statement prior genetic testing
    • UKGTN
    • Illumina TruGenome Clinical Sequencing Services
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Alport syndrome 2, autosomal recessive OMIM:203780
    • Hematuria, familial benign OMIM:141200

    Red COL4A4 in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.1651
    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 BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • BRIDGE study SPEED NEURO Tier1 Gene
    Phenotypes
    • Alport syndrome 2, autosomal recessive, OMIM:203780
    • Hematuria,familial benign, OMIM:141200

    Green COL4A4 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 BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    • Eligibility statement prior genetic testing
    Phenotypes
    • Alport syndrome 2, autosomal recessive, OMIM:203780
    • Hematuria,familial benign, OMIM:141200

    Green COL4A4 in Groopman et al 2019 - Genes with diagnostic variants


    Version 0.8

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert review green
    • Literature
    Phenotypes
    • MIM 203780
    • Hypertensive nephropathy
    • Congenital or cystic renal disease
    • Nephropathy of unknown origin
    • Glomerulopathy
    • Thin basement membrane disease
    • Alport syndrome, autosomal dominant/recessive
    • 141200

    Green COL4A4 in Severe Paediatric Disorders


    Version 1.127

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Hematuria, familial benign, 141200
    • Alport syndrome 2, autosomal recessive, 203780