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Unexplained young onset end-stage renal disease v4.3 CD151 Achchuthan Shanmugasundram Tag Q4_23_promote_green was removed from gene: CD151.
Unexplained young onset end-stage renal disease v4.3 CD151 Arina Puzriakova reviewed gene: CD151: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Unexplained young onset end-stage renal disease v4.2 CD151 Achchuthan Shanmugasundram Source Expert Review Green was added to CD151.
Source NHS GMS was added to CD151.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Unexplained young onset end-stage renal disease v3.21 CD151 Achchuthan Shanmugasundram changed review comment from: 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/).; to: 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/).
Unexplained young onset end-stage renal disease v3.21 CD151 Achchuthan Shanmugasundram changed review comment from: This gene should be promoted to green rating in this panel as it has already been rated green on 'Proteinuric renal disease' panel (https://panelapp.genomicsengland.co.uk/panels/106/gene/CD151/).; to: 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/).
Unexplained young onset end-stage renal disease v3.13 CD151 Achchuthan Shanmugasundram 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
Unexplained young onset end-stage renal disease v3.12 CD151 Achchuthan Shanmugasundram Tag Q4_23_promote_green tag was added to gene: CD151.
Unexplained young onset end-stage renal disease v3.12 CD151 Achchuthan Shanmugasundram changed review comment from: This gene should be promoted to green rating in this panel as it has already been rated green on 'Proteinuric renal disease' panel (https://panelapp.genomicsengland.co.uk/panels/106/gene/CD151/); to: This gene should be promoted to green rating in this panel as it has already been rated green on 'Proteinuric renal disease' panel (https://panelapp.genomicsengland.co.uk/panels/106/gene/CD151/).
Unexplained young onset end-stage renal disease v3.12 CD151 Achchuthan Shanmugasundram reviewed gene: CD151: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Epidermolysis bullosa simplex 7, with nephropathy and deafness, OMIM:609057; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Unexplained young onset end-stage renal disease v1.29 CD151 Eleanor Williams commented on gene: CD151: 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'.
Unexplained young onset end-stage renal disease v1.28 CD151 Eleanor Williams Source Expert list was added to CD151.
Unexplained young onset end-stage renal disease v1.7 CD151 Eleanor Williams Classified gene: CD151 as Amber List (moderate evidence)
Unexplained young onset end-stage renal disease v1.7 CD151 Eleanor Williams Added comment: 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.
Unexplained young onset end-stage renal disease v1.7 CD151 Eleanor Williams Gene: cd151 has been classified as Amber List (Moderate Evidence).
Unexplained young onset end-stage renal disease v1.6 CD151 Eleanor Williams Phenotypes for gene: CD151 were changed from to Nephropathy with pretibial epidermolysis bullosa and deafness 609057
Unexplained young onset end-stage renal disease v1.5 CD151 Eleanor Williams Publications for gene: CD151 were set to
Unexplained young onset end-stage renal disease v1.4 CD151 Eleanor Williams Mode of inheritance for gene: CD151 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Unexplained young onset end-stage renal disease v1.3 CD151 Eleanor Williams edited their review of gene: CD151: Added comment: 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 proteinuria; Changed publications: 15265795, 29138120, 17015618; Changed phenotypes: Nephropathy with pretibial epidermolysis bullosa and deafness 609057; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Unexplained young onset end-stage renal disease v0.2 CD151 Eleanor Williams reviewed gene: CD151: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.1 CD151 Eleanor Williams 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