1. Genes and Genomic Entities
  2. CD151

CD151

CD151 molecule (Raph blood group)
OMIM: 602243, Gene2Phenotype

7 panels

Panel Reviews Mode of inheritance Details
7 panels
Red CD151 in Epidermolysis bullosa

Level 3: Skin fragility disorders
Level 2: Dermatological disorders
Version 1.12

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Nephropathy with pretibial epidermolysis bullosa and deafness, 609057
  • [Blood group, Raph], 179620
  • Kindler syndrome-like epidermolysis bullosa
Amber CD151 in Epidermolysis bullosa and congenital skin fragility


Level 2: Dermatology
Version 2.13
Latest signed off version: v2.2 (22 Mar 2023)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Nephropathy with pretibial epidermolysis bullosa and deafness, OMIM:609057
Amber CD151 in Unexplained kidney failure in young people

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

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Eligibility statement prior genetic testing
Phenotypes
  • Nephropathy with pretibial epidermolysis bullosa and deafness 609057
Red CD151 in Fetal anomalies


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

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • NHS GMS
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Epidermolysis bullosa simplex 7, with nephropathy and deafness, OMIM:609057
Green CD151 in DDG2P


Version 6.424
Latest signed off version: v6.0 (30 Apr 2025)

Component of the following Super Panels:

  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • DD-Gene2Phenotype
    Phenotypes
    • NEPHROPATHY WITH PRETIBIAL EPIDERMOLYSIS BULLOSA AND DEAFNESS 609057
    Red CD151 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 Not set
    Sources
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Nephropathy with pretibial epidermolysis bullosa and deafness, 609057
    • Nephropathywithpretibialepidermolysisbullosaanddeafness,609057
    Green CD151 in Proteinuric renal disease


    Level 2: Renal
    Version 5.7
    Latest signed off version: v5.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Unexplained young onset end-stage renal disease

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    • Eligibility statement prior genetic testing
    Phenotypes
    • Nephropathy with pretibial epidermolysis bullosa and deafness, OMIM:609057
    • nephrotic syndrome - deafness - pretibial epidermolysis bullosa syndrome, MONDO:0012190