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  2. Alport syndrome_VCGS
  3. CD151
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Alport syndrome_VCGS

Gene: CD151

Red List (low evidence)
CD151 (CD151 molecule (Raph blood group))
EnsemblGeneIds (GRCh38): ENSG00000177697
EnsemblGeneIds (GRCh37): ENSG00000177697
OMIM: 602243, Gene2Phenotype
CD151 is in 7 panels

0 reviews

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Nephropathy with pretibial epidermolysis bullosa and deafness, MIM#609057
OMIM
602243
Clinvar variants
Variants in CD151
Penetrance
None
Publications
Panels with this gene

History Filter Activity

23 Dec 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Ivone Leong (Genomics England Curator)

gene: CD151 was added gene: CD151 was added to Alport syndrome_VCGS. Sources: Victorian Clinical Genetics Services,Expert Review Red Mode of inheritance for gene: CD151 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CD151 were set to 29138120; 15265795 Phenotypes for gene: CD151 were set to Nephropathy with pretibial epidermolysis bullosa and deafness, MIM#609057