1. Genes and Genomic Entities
  2. COL4A6

COL4A6

collagen type IV alpha 6 chain
OMIM: 303631, Gene2Phenotype

4 panels

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

Level 3: Disorders of function
Level 2: Renal and urinary tract disorders
Version 1.124

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)
Amber COL4A6 in Monogenic hearing loss


Level 2: Audiology
Version 5.57
Latest signed off version: v5.0 (30 Apr 2025)

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 2: Renal
    Version 2.17
    Latest signed off version: v2.15 (30 Apr 2025)

    Component of the following Super Panels:

  • Unexplained young onset end-stage renal disease

    		•  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


    Level 2: Developmental disorders
    Version 9.285
    Latest signed off version: v9.0 (30 Apr 2025)

    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