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  3. CD151
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Epidermolysis bullosa

Gene: CD151

Green List (high evidence)
CD151 (CD151 molecule (Raph blood group))
EnsemblGeneIds (GRCh38): ENSG00000177697
EnsemblGeneIds (GRCh37): ENSG00000177697
OMIM: 602243, Gene2Phenotype
CD151 is in 6 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Three families described in the literature
Sources: Literature
Created: 23 Dec 2019, 7:26 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Nephropathy with pretibial epidermolysis bullosa and deafness, MIM#609057

Publications

Created: 23 Dec 2019, 7:26 a.m.

Panel version: 1.3

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
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: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: cd151 has been classified as Green List (High Evidence).

23 Dec 2019, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: cd151 has been classified as Green List (High Evidence).

23 Dec 2019, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: CD151 was added gene: CD151 was added to Epidermolysis bullosa_VCGS. Sources: Literature Mode of inheritance for gene: CD151 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CD151 were set to 15265795; 29138120 Phenotypes for gene: CD151 were set to Nephropathy with pretibial epidermolysis bullosa and deafness, MIM#609057