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Membranoproliferative glomerulonephritis v2.1 Ellen McDonagh List of related panels changed from PMG; MPGN; Primary Membranoproliferative Glomerulonephritis; R197 to PMG; MPGN; Primary Membranoproliferative Glomerulonephritis; Primary membranoproliferative glomerulonephritis; R197
Membranoproliferative glomerulonephritis v2.0 Ellen McDonagh promoted panel to version 2.0
Membranoproliferative glomerulonephritis v1.17 Ellen McDonagh Panel types changed to Rare Disease 100K; GMS Rare Disease; GMS signed-off
Membranoproliferative glomerulonephritis v1.16 Eleanor Williams List of related panels changed from PMG; MPGN; Primary Membranoproliferative Glomerulonephritis to PMG; MPGN; Primary Membranoproliferative Glomerulonephritis; R197
Membranoproliferative glomerulonephritis v1.15 CFB Eleanor Williams Classified gene: CFB as Green List (high evidence)
Membranoproliferative glomerulonephritis v1.15 CFB Eleanor Williams Added comment: Comment on list classification: Promoting from Amber to Green. Sufficient cases reported.
Membranoproliferative glomerulonephritis v1.15 CFB Eleanor Williams Gene: cfb has been classified as Green List (High Evidence).
Membranoproliferative glomerulonephritis v1.14 CFB Eleanor Williams changed review comment from: Associated with {Hemolytic uremic syndrome, atypical, susceptibility to, 4} (#612924) in OMIM.

PMID: 26283675 - Bu et al 2016 - screened 193 patients using a gene panel facilitate genetic testing in aHUS, TTP, C3GN, and DDD. Report 1 variant found in a patient with aHUS and 3 in patients with C3 glomerulonephritis. Individual patient and variant information not given.

PMID: 25758434 - Imamura et al 2015 - 1 family. Daughter diagnosed with C3 glomerulonephritis, mother treated for membranoproliferative glomerulonephritis, and brother with hypocomplementemia without urinary abnormalities. All 3 found to have heterozygosity for CFB p.S367R that was not present in the unaffected father or younger sister. Other variants were found in the daughter, CFI p.R201S and C3 p.V916I were excluded as in other unaffected individuals or appear in high frequency in other populations. They propose that it is highly likely that p.S367R causes a gain of function in CFB through a structure–function relationship.; to: Associated with {Hemolytic uremic syndrome, atypical, susceptibility to, 4} (#612924) in OMIM.

PMID: 28210841 - Alfakeeh et al 2017 - 7-year-old boy has pathological features compatible with IC-MPGN. A heterozygous variant p.Glu566Arg in exon 13 of the CFB gene was found.

PMID: 26283675 - Bu et al 2016 - screened 193 patients using a gene panel facilitate genetic testing in aHUS, TTP, C3GN, and DDD. Report 1 variant found in a patient with aHUS and 3 in patients with C3 glomerulonephritis. Individual patient and variant information not given.

PMID: 25758434 - Imamura et al 2015 - 1 family. Daughter diagnosed with C3 glomerulonephritis, mother treated for membranoproliferative glomerulonephritis, and brother with hypocomplementemia without urinary abnormalities. All 3 found to have heterozygosity for CFB p.S367R that was not present in the unaffected father or younger sister. Other variants were found in the daughter, CFI p.R201S and C3 p.V916I were excluded as in other unaffected individuals or appear in high frequency in other populations. They propose that it is highly likely that p.S367R causes a gain of function in CFB through a structure–function relationship.
Membranoproliferative glomerulonephritis v1.14 CFB Eleanor Williams Phenotypes for gene: CFB were changed from Haemolytic uraemic syndrome; aHUS; Hemolytic uremic syndrome, atypical, susceptibility to, 4, 612924; C3 glomerulopathy; C3G; Immune complex MPGN; IC-MPGN to Haemolytic uraemic syndrome; aHUS; Hemolytic uremic syndrome, atypical, susceptibility to, 4, 612924; C3 glomerulopathy; C3G; Immune complex MPGN; IC-MPGN; MPGN; Membranoproliferative glomerulonephritis
Membranoproliferative glomerulonephritis v1.13 CFB Eleanor Williams Publications for gene: CFB were set to 25758434; 17182750; 21902819
Membranoproliferative glomerulonephritis v1.12 CFB Eleanor Williams Added comment: Comment on mode of pathogenicity: Gain of function proposed
Membranoproliferative glomerulonephritis v1.12 CFB Eleanor Williams Mode of pathogenicity for gene: CFB was changed from to Other
Membranoproliferative glomerulonephritis v1.11 CFB Eleanor Williams Added comment: Comment on mode of inheritance: Familial case reported shows a monoallelic mode of inheritance
Membranoproliferative glomerulonephritis v1.11 CFB Eleanor Williams Mode of inheritance for gene: CFB was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Membranoproliferative glomerulonephritis v1.10 CFB Eleanor Williams commented on gene: CFB: Associated with {Hemolytic uremic syndrome, atypical, susceptibility to, 4} (#612924) in OMIM.

PMID: 26283675 - Bu et al 2016 - screened 193 patients using a gene panel facilitate genetic testing in aHUS, TTP, C3GN, and DDD. Report 1 variant found in a patient with aHUS and 3 in patients with C3 glomerulonephritis. Individual patient and variant information not given.

PMID: 25758434 - Imamura et al 2015 - 1 family. Daughter diagnosed with C3 glomerulonephritis, mother treated for membranoproliferative glomerulonephritis, and brother with hypocomplementemia without urinary abnormalities. All 3 found to have heterozygosity for CFB p.S367R that was not present in the unaffected father or younger sister. Other variants were found in the daughter, CFI p.R201S and C3 p.V916I were excluded as in other unaffected individuals or appear in high frequency in other populations. They propose that it is highly likely that p.S367R causes a gain of function in CFB through a structure–function relationship.
Membranoproliferative glomerulonephritis v1.10 C3 Eleanor Williams Classified gene: C3 as Green List (high evidence)
Membranoproliferative glomerulonephritis v1.10 C3 Eleanor Williams Added comment: Comment on list classification: 2 cases plus functional data and expert review green.
Membranoproliferative glomerulonephritis v1.10 C3 Eleanor Williams Gene: c3 has been classified as Green List (High Evidence).
Membranoproliferative glomerulonephritis v1.9 C3 Eleanor Williams Publications for gene: C3 were set to 24172683; 20852386; 18796626; 21902819
Membranoproliferative glomerulonephritis v1.8 C3 Eleanor Williams Added comment: Comment on mode of pathogenicity: Gain of function
Membranoproliferative glomerulonephritis v1.8 C3 Eleanor Williams Mode of pathogenicity for gene: C3 was changed from to Other
Membranoproliferative glomerulonephritis v1.7 C3 Eleanor Williams Mode of inheritance for gene: C3 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Membranoproliferative glomerulonephritis v1.6 C3 Eleanor Williams commented on gene: C3: Associated with C3 deficiency (#613779) and {Hemolytic uremic syndrome, atypical, susceptibility to, 5} (#612925) in OMIM.

PMID: 20852386 - Martínez-Barricarte et al 2010 - report a case a mother and her two identical twin sons with Dense deposit disease (DDD) caused by a heterozygous variant in the C3 gene. The mutation, c.2767_2774delACGGTG (C3923ΔDG) in exon 21, results in a mutated protein (C3923ΔDG) lacking 2 amino acids (Asp923 and Gly924) in the MG7 domain of C3. The deletion was only present in affected family members. Functional studies suggest a gain of function.

PMID: 26471127 - Chauvet et al 2016 - report functional characterization of a C3 mutation identified in two brothers with C3GN (C3 glomerulopathy). Both carry the same c.2327T>C heterozygous mutation in the C3 gene, leading to p.I756T. The mutation was not found in the 1000 genomes or EVS databases. In vitro the C3 mutation exhibited decreased binding to CR1, resulting in less CR1-dependent cleavage of C3b by factor 1.
Membranoproliferative glomerulonephritis v1.6 CFB David Kavanagh reviewed gene: CFB: Rating: GREEN; Mode of pathogenicity: Other; Publications: 26283675, 25758434; Phenotypes: C3G, MPGN; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Membranoproliferative glomerulonephritis v1.6 C3 David Kavanagh reviewed gene: C3: Rating: GREEN; Mode of pathogenicity: Other; Publications: 20852386, 26471127; Phenotypes: C3G, MPGN; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Membranoproliferative glomerulonephritis v1.5 CFHR2 Anna de Burca reviewed gene: CFHR2: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance: None
Membranoproliferative glomerulonephritis v1.5 CFHR1 Anna de Burca reviewed gene: CFHR1: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance: None
Membranoproliferative glomerulonephritis v1.5 DGKE Eleanor Williams reviewed gene: DGKE: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Membranoproliferative glomerulonephritis v1.5 CFB Eleanor Williams reviewed gene: CFB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Membranoproliferative glomerulonephritis v1.5 C3 Eleanor Williams reviewed gene: C3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Membranoproliferative glomerulonephritis v1.5 CFI Eleanor Williams reviewed gene: CFI: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Membranoproliferative glomerulonephritis v1.5 CFH Eleanor Williams reviewed gene: CFH: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Membranoproliferative glomerulonephritis v1.4 DGKE Eleanor Williams Source NHS GMS was added to DGKE.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Membranoproliferative glomerulonephritis v1.4 CFB Eleanor Williams Source NHS GMS was added to CFB.
Membranoproliferative glomerulonephritis v1.4 C3 Eleanor Williams Source NHS GMS was added to C3.
Membranoproliferative glomerulonephritis v1.4 CFI Eleanor Williams Source NHS GMS was added to CFI.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Membranoproliferative glomerulonephritis v1.4 CFH Eleanor Williams Source NHS GMS was added to CFH.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Membranoproliferative glomerulonephritis v1.2 Ellen McDonagh Panel name changed from Primary Membranoproliferative Glomerulonephritis to Membranoproliferative glomerulonephritis
List of related panels changed from PMG; MPGN to PMG; MPGN; Primary Membranoproliferative Glomerulonephritis
Panel types changed to Rare Disease 100K; GMS Rare Disease
Membranoproliferative glomerulonephritis DGKE Arianna Tucci marked DGKE as ready
Membranoproliferative glomerulonephritis DGKE Arianna Tucci classified DGKE as Green List (high evidence)
Membranoproliferative glomerulonephritis Louise Daugherty promoted panel to version 1.0
Membranoproliferative glomerulonephritis CFB Arianna Tucci reviewed CFB
Membranoproliferative glomerulonephritis CFB Arianna Tucci classified CFB as Amber List (moderate evidence)
Membranoproliferative glomerulonephritis DGKE Arianna Tucci marked DGKE as ready
Membranoproliferative glomerulonephritis DGKE Arianna Tucci classified DGKE as Amber List (moderate evidence)
Membranoproliferative glomerulonephritis CD46 Arianna Tucci marked CD46 as ready
Membranoproliferative glomerulonephritis C3 Arianna Tucci marked C3 as ready
Membranoproliferative glomerulonephritis CFB Arianna Tucci edited their review of CFB
Membranoproliferative glomerulonephritis CFB Arianna Tucci reviewed CFB
Membranoproliferative glomerulonephritis CFI Arianna Tucci marked CFI as ready
Membranoproliferative glomerulonephritis CFHR5 Arianna Tucci marked CFHR5 as ready
Membranoproliferative glomerulonephritis CFHR2 Arianna Tucci marked CFHR2 as ready
Membranoproliferative glomerulonephritis CFHR1 Arianna Tucci marked CFHR1 as ready
Membranoproliferative glomerulonephritis CFH Arianna Tucci marked CFH as ready
Membranoproliferative glomerulonephritis CFI Louise Daugherty classified CFI as green
Membranoproliferative glomerulonephritis CFHR5 Louise Daugherty classified CFHR5 as green
Membranoproliferative glomerulonephritis CFHR2 Louise Daugherty classified CFHR2 as green
Membranoproliferative glomerulonephritis CFHR1 Louise Daugherty classified CFHR1 as green
Membranoproliferative glomerulonephritis CFH Louise Daugherty classified CFH as green
Membranoproliferative glomerulonephritis DGKE BRIDGE consortium reviewed DGKE
Membranoproliferative glomerulonephritis CFI BRIDGE consortium reviewed CFI
Membranoproliferative glomerulonephritis CFHR5 BRIDGE consortium reviewed CFHR5
Membranoproliferative glomerulonephritis CFHR2 BRIDGE consortium reviewed CFHR2
Membranoproliferative glomerulonephritis CFHR1 BRIDGE consortium reviewed CFHR1
Membranoproliferative glomerulonephritis CFH BRIDGE consortium reviewed CFH
Membranoproliferative glomerulonephritis CFB BRIDGE consortium reviewed CFB
Membranoproliferative glomerulonephritis CD46 BRIDGE consortium commented on CD46
Membranoproliferative glomerulonephritis CD46 BRIDGE consortium reviewed CD46
Membranoproliferative glomerulonephritis C3 BRIDGE consortium reviewed C3
Membranoproliferative glomerulonephritis CFHR1 Louise Daugherty reviewed CFHR1
Membranoproliferative glomerulonephritis CFH Louise Daugherty reviewed CFH
Membranoproliferative glomerulonephritis CFI Louise Daugherty reviewed CFI
Membranoproliferative glomerulonephritis CFHR5 Louise Daugherty reviewed CFHR5
Membranoproliferative glomerulonephritis CFHR2 Louise Daugherty reviewed CFHR2
Membranoproliferative glomerulonephritis Ellen McDonagh approved panel