Activity

Filter

Cancel
Date Panel Item Activity
27 actions
Proteinuric renal disease v2.68 CD151 Eleanor Williams Tag for-review was removed from gene: CD151.
Tag Q3_21_NHS_review was removed from gene: CD151.
Proteinuric renal disease v2.66 CD151 Eleanor Williams commented on gene: CD151: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Proteinuric renal disease v2.65 CD151 Eleanor Williams Source Expert Review Green was added to CD151.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Proteinuric renal disease v2.55 CD151 Eleanor Williams Tag Q3_21_NHS_review tag was added to gene: CD151.
Proteinuric renal disease v2.55 CD151 Eleanor Williams Classified gene: CD151 as Amber List (moderate evidence)
Proteinuric renal disease v2.55 CD151 Eleanor Williams Added comment: Comment on list classification: Further case reported by Natalie Forrester from the South West Genomic Laboratory Hub, which supports the recommendation for a green rating.
Proteinuric renal disease v2.55 CD151 Eleanor Williams Gene: cd151 has been classified as Amber List (Moderate Evidence).
Proteinuric renal disease v2.54 CD151 Eleanor Williams Publications for gene: CD151 were set to 15265795; 17015618; 29138120
Proteinuric renal disease v2.53 CD151 Eleanor Williams Phenotypes for gene: CD151 were changed from Nephropathy with pretibial epidermolysis bullosa and deafness #609057 to Nephropathy with pretibial epidermolysis bullosa and deafness, OMIM:609057; nephrotic syndrome - deafness - pretibial epidermolysis bullosa syndrome, MONDO:0012190
Proteinuric renal disease v2.50 CD151 Natalie Forrester reviewed gene: CD151: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 15265795, 29138120, 17015618, 32641585, 22338088, 18787104, 22201679; Phenotypes: Nephropathy with pretibial epidermolysis bullosa and deafness #609057; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Proteinuric renal disease v2.29 CD151 Catherine Snow Classified gene: CD151 as Amber List (moderate evidence)
Proteinuric renal disease v2.29 CD151 Catherine Snow Added comment: Comment on list classification: Changed rating to Amber to reflect NHS signed-off rating, will be examined at next panel review.
Proteinuric renal disease v2.29 CD151 Catherine Snow Gene: cd151 has been classified as Amber List (Moderate Evidence).
Proteinuric renal disease v2.26 CD151 Eleanor Williams Tag for-review tag was added to gene: CD151.
Proteinuric renal disease v2.23 CD151 Eleanor Williams changed review comment from: Associated with Nephropathy with pretibial epidermolysis bullosa and deafness #609057 in OMIM (no inheritance pattern given). 2 patients are described as having proteinuria in the nephrotic range among other features.

3 cases plus mouse model that replicates the kidney phenotype:

PMID: 15265795 - Karamatic Crew et al 2004 - report two sibs and a third unrelated patient, all of Indian Jewish origin who lack the MER2 antigen and have made anti-MER2. All had end-stage kidney disease. The two sibs had other phenotypic features such as pretibial bullous skin lesions, neurosensory deafness, bilateral lacrimal duct stenosis, nail dystrophy, and β-thalassemia minor. Less information available about the 3rd patient. Direct sequencing of all CD151 exons revealed a homozygous single nucleotide insertion G383 which causes a frameshift after Lys127, introducing a premature stop signal at codon 140. Ages of patients are not given.

PMID: 29138120 - Vahidnezhad et al 2018 - report 1 consangineous family with Epidermolysis bullosa which was screened using a gene panel and NGS. A homozygous donor splice site mutation in CD151 (NM_139029; c.351+2T>C) was found. In this family the 33-year old proband, initially diagnosed as Kindler syndrome, had widespread blistering, poikiloderma, nail dystrophy, loss of teeth, early onset alopecia, and esophageal webbing and strictures. The patient also had history of nephropathy with proteinuria. (Abstract only accessed).

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 caused by focal glomerulosclerosis, disorganization of the glomerular basement membrane, and tubular cystic dilation. The skin and hearing phenotypes were not observed.; to: Associated with Nephropathy with pretibial epidermolysis bullosa and deafness #609057 in OMIM (no inheritance pattern given). 2 patients are described as having proteinuria in the nephrotic range among other features.

3 cases (but 2 have the same variant - founder effect?) plus mouse model that replicates the kidney phenotype:

PMID: 15265795 - Karamatic Crew et al 2004 - report two sibs and a third unrelated patient, all of Indian Jewish origin who lack the MER2 antigen and have made anti-MER2. All had end-stage kidney disease. The two sibs had other phenotypic features such as pretibial bullous skin lesions, neurosensory deafness, bilateral lacrimal duct stenosis, nail dystrophy, and β-thalassemia minor. Less information available about the 3rd patient. Direct sequencing of all CD151 exons revealed a homozygous single nucleotide insertion G383 which causes a frameshift after Lys127, introducing a premature stop signal at codon 140. Ages of patients are not given.

PMID: 29138120 - Vahidnezhad et al 2018 - report 1 consangineous family with Epidermolysis bullosa which was screened using a gene panel and NGS. A homozygous donor splice site mutation in CD151 (NM_139029; c.351+2T>C) was found. In this family the 33-year old proband, initially diagnosed as Kindler syndrome, had widespread blistering, poikiloderma, nail dystrophy, loss of teeth, early onset alopecia, and esophageal webbing and strictures. The patient also had history of nephropathy with proteinuria. (Abstract only accessed).

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 caused by focal glomerulosclerosis, disorganization of the glomerular basement membrane, and tubular cystic dilation. The skin and hearing phenotypes were not observed.
Proteinuric renal disease v2.23 CD151 Eleanor Williams Publications for gene: CD151 were set to 15265795; 17015618; 29138120
Proteinuric renal disease v2.22 CD151 Eleanor Williams Publications for gene: CD151 were set to 15265795
Proteinuric renal disease v2.21 CD151 Eleanor Williams Mode of inheritance for gene: CD151 was changed from to BIALLELIC, autosomal or pseudoautosomal
Proteinuric renal disease v2.20 CD151 Eleanor Williams Classified gene: CD151 as Green List (high evidence)
Proteinuric renal disease v2.20 CD151 Eleanor Williams Added comment: Comment on list classification: 3 cases reported plus mouse model
Proteinuric renal disease v2.20 CD151 Eleanor Williams Gene: cd151 has been classified as Green List (High Evidence).
Proteinuric renal disease v2.19 CD151 Eleanor Williams commented on gene: CD151: Associated with Nephropathy with pretibial epidermolysis bullosa and deafness #609057 in OMIM (no inheritance pattern given). 2 patients are described as having proteinuria in the nephrotic range among other features.

3 cases plus mouse model that replicates the kidney phenotype:

PMID: 15265795 - Karamatic Crew et al 2004 - report two sibs and a third unrelated patient, all of Indian Jewish origin who lack the MER2 antigen and have made anti-MER2. All had end-stage kidney disease. The two sibs had other phenotypic features such as pretibial bullous skin lesions, neurosensory deafness, bilateral lacrimal duct stenosis, nail dystrophy, and β-thalassemia minor. Less information available about the 3rd patient. Direct sequencing of all CD151 exons revealed a homozygous single nucleotide insertion G383 which causes a frameshift after Lys127, introducing a premature stop signal at codon 140. Ages of patients are not given.

PMID: 29138120 - Vahidnezhad et al 2018 - report 1 consangineous family with Epidermolysis bullosa which was screened using a gene panel and NGS. A homozygous donor splice site mutation in CD151 (NM_139029; c.351+2T>C) was found. In this family the 33-year old proband, initially diagnosed as Kindler syndrome, had widespread blistering, poikiloderma, nail dystrophy, loss of teeth, early onset alopecia, and esophageal webbing and strictures. The patient also had history of nephropathy with proteinuria. (Abstract only accessed).

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 caused by focal glomerulosclerosis, disorganization of the glomerular basement membrane, and tubular cystic dilation. The skin and hearing phenotypes were not observed.
Proteinuric renal disease v2.0 CD151 Zornitza Stark reviewed gene: CD151: Rating: GREEN; Mode of pathogenicity: None; Publications: 15265795, 29138120; Phenotypes: Nephropathy with pretibial epidermolysis bullosa and deafness, MIM#609057; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Proteinuric renal disease v1.185 CD151 Eleanor Williams Phenotypes for gene: CD151 were changed from to Nephropathy with pretibial epidermolysis bullosa and deafness #609057
Proteinuric renal disease v1.184 CD151 Eleanor Williams Publications for gene: CD151 were set to
Proteinuric renal disease v1.16 CD151 Eleanor Williams reviewed gene: CD151: Rating: RED; Mode of pathogenicity: ; Publications: PMID: 15265795; Phenotypes: Nephropathy with pretibial epidermolysis bullosa and deafness #609057; Mode of inheritance: Unknown; Current diagnostic: yes
Proteinuric renal disease v1.15 CD151 Eleanor Williams Source NHS GMS was added to CD151.