Epidermolysis bullosa

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

2 reviews

Louise Daugherty (Genomics England Curator)

Comment on list classification: currently there is not enough evidence to support this gene is involved in EB
Created: 21 Apr 2017, 12:17 p.m.

John McGrath (King's College London)

Red List (low evidence)

This was discussed at the consensus meeting - and it was decided that the data were not proven and therefore not classifiable as EB.
Created: 19 Nov 2015, 3:43 p.m.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Nephropathy with pretibial epidermolysis bullosa and deafness, 609057
  • [Blood group, Raph], 179620
  • Kindler syndrome-like epidermolysis bullosa
OMIM
602243
Clinvar variants
Variants in CD151
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

7 Jan 2019, Gel status: 1

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Phenotypes for gene: CD151 were changed from Nephropathy with pretibial epidermolysis bullosa and deafness, 609057; [Blood group, Raph], 179620 to Nephropathy with pretibial epidermolysis bullosa and deafness, 609057; [Blood group, Raph], 179620; Kindler syndrome-like epidermolysis bullosa

7 Jan 2019, Gel status: 1

Set mode of inheritance

Rebecca Foulger (Genomics England curator)

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

7 Jan 2019, Gel status: 1

Set publications

Rebecca Foulger (Genomics England curator)

Publications for gene: CD151 were set to

25 Apr 2017, Gel status: 1

panel promoted to version 1

Louise Daugherty (Genomics England Curator)

Panel reviews were assessed, and panel was revised according to reviews and further curation.

21 Apr 2017, Gel status: 1

Gene classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

28 Oct 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

CD151 was added to Epidermolysis bullosapanel. Sources: Radboud University Medical Center, Nijmegen

28 Oct 2015, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

CD151 was created by ellenmcdonagh