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  3. CD151
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Haematuria_Alport

Gene: CD151

Red List (low 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)

Red List (low evidence)

Three families described in the literature, but presentation is more with proteinuria rather than haematuria; although the presence of deafness may indeed raise the possibility of Alport syndrome. Gene to be included in proteinuria panel and is also part of Glomerular Disease SuperPanel.
Created: 23 Dec 2019, 6:39 a.m. | Last Modified: 23 Dec 2019, 6:39 a.m.
Panel Version: 0.0

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

Created: 23 Dec 2019, 6:39 a.m.
Last Modified: 23 Dec 2019, 6:39 a.m.
Panel version: Imported from Alport syndrome_VCGS panel version 0.0

Details

Mode of Inheritance
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
OMIM
602243
Clinvar variants
Variants in CD151
Penetrance
None
Publications
Panels with this gene

History Filter Activity

3 Jan 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: cd151 has been classified as Red List (Low Evidence).

3 Jan 2020, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: CD151 were changed from to Nephropathy with pretibial epidermolysis bullosa and deafness, MIM#609057

3 Jan 2020, Gel status: 1

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: CD151 were set to 15265795; 29138120

3 Jan 2020, Gel status: 1

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: CD151 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal

3 Jan 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: cd151 has been classified as Red List (Low Evidence).

3 Jan 2020, Gel status: 1

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: CD151 were set to

3 Jan 2020, Gel status: 1

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: CD151 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

3 Jan 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: cd151 has been classified as Red List (Low Evidence).

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: CD151 was added gene: CD151 was added to Alport syndrome extended_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: CD151 was set to Unknown