1. Genes and Genomic Entities
  2. CD151

CD151

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

8 panels

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

Level 3: Skin fragility disorders
Level 2: Dermatological disorders
Version 1.11

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


Version 2.7
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 1.119

Component of the following Super Panels:

  • Renal superpanel - broad

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Eligibility statement prior genetic testing
    Phenotypes
    • Nephropathy with pretibial epidermolysis bullosa and deafness 609057
    Amber CD151 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 BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert list
    • Expert Review Amber
    Phenotypes
    • Epidermolysis bullosa simplex 7, with nephropathy and deafness, OMIM:609057
    Tags
    • Q4_23_promote_green
    Amber CD151 in Fetal anomalies


    Version 3.164
    Latest signed off version: v3.0 (22 Mar 2023)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • PAGE DD-Gene2Phenotype
    Phenotypes
    • NEPHROPATHY WITH PRETIBIAL EPIDERMOLYSIS BULLOSA AND DEAFNESS
    Green CD151 in DDG2P


    Version 3.88
    Latest signed off version: v3.1 (22 Mar 2023)

    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 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 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 3: Syndromes with prominent renal abnormalities
    Level 2: Renal and urinary tract disorders
    Version 4.12
    Latest signed off version: v4.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Renal superpanel - broad
  • Renal superpanel - narrow

    		•  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