1. Genes and Genomic Entities
  2. COL4A6

COL4A6

collagen type IV alpha 6 chain
OMIM: 303631, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels
Red COL4A6 in Unexplained kidney failure in young people

Level 3: Disorders of function
Level 2: Renal and urinary tract disorders
Version 1.119

Component of the following Super Panels:

  • Renal superpanel - broad

    		•  review Not set
    Sources
    • Radboud University Medical Center, Nijmegen
    • Expert Review Red
    Phenotypes
    • diffuse leiomyomatosis with Alport syndrome = contiguous gene with COL4A5
    • Leiomyomatosis, diffuse, with Alport syndrome, 308940 (4)
    • diffuse leiomyomatosis with Alport syndrome = contiguous gene with COL4A5 Leiomyomatosis, diffuse, with Alport syndrome, 308940 (4)
    • (originally on Alport syndrome gene panel)
    Red COL4A6 in Unexplained young onset end-stage renal disease


    Version 3.41
    Latest signed off version: v3.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Renal superpanel - broad

    		•  review Unknown
    Sources
    • Expert Review Red
    Phenotypes
    • (originally on Alport syndrome gene panel)
    • diffuse leiomyomatosis with Alport syndrome = contiguous gene with COL4A5
    • diffuse leiomyomatosis with Alport syndrome = contiguous gene with COL4A5 Leiomyomatosis, diffuse, with Alport syndrome, 308940 (4)
    • Leiomyomatosis, diffuse, with Alport syndrome, 308940 (4)
    Amber COL4A6 in Monogenic hearing loss

    Level 3: Non-syndromic hearing loss
    Level 2: Hearing and ear disorders
    Version 4.38
    Latest signed off version: v4.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert Review Amber
    • Expert
    • Radboud University Medical Center, Nijmegen
    • UKGTN
    Phenotypes
    • Deafness, X-linked 6, OMIM:300914
    Red COL4A6 in Haematuria

    Level 3: Syndromes with prominent renal abnormalities
    Level 2: Renal and urinary tract disorders
    Version 2.13
    Latest signed off version: v2.4 (15 Oct 2020)

    Component of the following Super Panels:

  • Renal superpanel - broad
  • Renal superpanel - narrow

    		•  review Not set
    Sources
    • NHS GMS
    • Expert Review Red
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • diffuse leiomyomatosis with Alport syndrome = contiguous gene with COL4A5
    • Leiomyomatosis, diffuse, with Alport syndrome, 308940 (4)
    • diffuse leiomyomatosis with Alport syndrome = contiguous gene with COL4A5 Leiomyomatosis, diffuse, with Alport syndrome, 308940 (4)
    • (originally on Alport syndrome gene panel)
    Red COL4A6 in Intellectual disability - microarray and sequencing

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 5.544
    Latest signed off version: v5.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders

    		•  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
    • Expert Review Red
    Phenotypes
    • ?Deafness, X-linked 6 300914