Unexplained young onset end-stage renal disease
Gene: CD151
This gene should be promoted to green rating in 'R257 Unexplained young onset end-stage renal disease' panel as it is already green on 'R195 Proteinuric renal disease' panel (https://panelapp.genomicsengland.co.uk/panels/106/gene/CD151/).Created: 10 Jan 2024, 6:58 p.m. | Last Modified: 11 Jan 2024, 11:13 a.m.
Panel Version: 3.21
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Epidermolysis bullosa simplex 7, with nephropathy and deafness, OMIM:609057
The mode of inheritance of this gene has been updated following NHS Genomic Medicine Service approval. This change is from 'Unknown' to 'BIALLELIC, autosomal or pseudoautosomal'.Created: 8 Mar 2022, 1:59 p.m. | Last Modified: 8 Mar 2022, 1:59 p.m.
Panel Version: 1.29
Comment on list classification: Changing rating from red to amber as 2 cases have been reported with end stage renal disease, although the same variant is reported and the families are from the same ethnic origin. Also the presentation is syndromic so end-stage renal disease is unlikely to be the only phenotype picked up.Created: 31 Mar 2020, 1:53 p.m. | Last Modified: 31 Mar 2020, 1:53 p.m.
Panel Version: 1.7
Associated with Nephropathy with pretibial epidermolysis bullosa and deafness #609057 in OMIM.
The 3 patients from 2 families described in PMID: 15265795 - Karamatic Crew et al 2004 all had end-stage kidney disease and homozygous insertion in the CD151 gene. Although they are described as unrelated both families are of Indian Jewish origin. The ages of the patients are not reported.
Another case is described in PMID: 29138120 - Vahidnezhad et al 2018 where the patient had history of nephropathy with proteinuria.
PMID: 17015618 - Sachs et al 2006 - report the generation of Cd151-null mice that recapitulate the renal pathology of human patients, i.e., with age they develop massive proteinuriaCreated: 31 Mar 2020, 1:46 p.m. | Last Modified: 31 Mar 2020, 1:46 p.m.
Panel Version: 1.3
Gene imported from the 'Renal and urinary tract disorders' panel v1.8 with a rating of RedCreated: 9 Apr 2019, 11:17 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Nephropathy with pretibial epidermolysis bullosa and deafness 609057
Publications
Phenotypes for gene: CD151 were changed from Nephropathy with pretibial epidermolysis bullosa and deafness 609057 to Epidermolysis bullosa simplex 7, with nephropathy and deafness, OMIM:609057
Tag Q4_23_promote_green tag was added to gene: CD151.
Source Expert list was added to CD151.
Gene: cd151 has been classified as Amber List (Moderate Evidence).
Phenotypes for gene: CD151 were changed from to Nephropathy with pretibial epidermolysis bullosa and deafness 609057
Publications for gene: CD151 were set to
Mode of inheritance for gene: CD151 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
gene: CD151 was added gene: CD151 was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Red Mode of inheritance for gene: CD151 was set to Unknown