CD151

CD151 molecule (Raph blood group)
OMIM: 602243, ClinGen, DECIPHER

6 panels

Panel Reviews Mode of inheritance Details
6 panels

Red CD151 in Haematuria_Alport


Level 2: Renal and urinary tract disorders
Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
  • Victorian Clinical Genetics Services
Phenotypes
  • Nephropathy with pretibial epidermolysis bullosa and deafness, MIM#609057

Green CD151 in Epidermolysis bullosa


Level 2: Dermatological disorders
Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Nephropathy with pretibial epidermolysis bullosa and deafness, MIM#609057

Green CD151 in Mendeliome


Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Nephropathy with pretibial epidermolysis bullosa and deafness, MIM#609057

Green CD151 in Proteinuria


Level 2: Renal and urinary tract disorders
Version 1.0

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Green
  • Expert list
Phenotypes
  • Nephropathy with pretibial epidermolysis bullosa and deafness, MIM#609057

Amber CD151 in Deafness_IsolatedAndComplex


Level 2: Hearing and ear disorders
Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Nephropathy with pretibial epidermolysis bullosa and deafness, MIM#609057

Red CD151 in Fetal anomalies


Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Genomics England PanelApp
Phenotypes
  • Nephropathy with pretibial epidermolysis bullosa and deafness, MIM#609057