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Hearing loss

Gene: CD151

Red List (low evidence)

CD151 (CD151 molecule (Raph blood group))
EnsemblGeneIds (GRCh38): ENSG00000177697
EnsemblGeneIds (GRCh37): ENSG00000177697
OMIM: 602243, Gene2Phenotype
CD151 is in 9 panels

1 review

Jun Shen (Harvard Medical School)

Red List (low evidence)

Mode of inheritance
Unknown

Phenotypes
#179620:[Blood group, Raph][<omim version=1.0><clinicalSynopsisList>]; #609057:Nephropathy with pretibial epidermolysis bullosa and deafness[<omim version=1.0><clinicalSynopsisList>]

Publications

Details

Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Nephropathy with pretibial epidermolysis bullosa and deafness, 609057
  • Nephropathywithpretibialepidermolysisbullosaanddeafness,609057
OMIM
602243
Clinvar variants
Variants in CD151
Penetrance
Complete
Panels with this gene

History Filter Activity

24 Jun 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

CD151 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Radboud University Medical Center, Nijmegen