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Membranoproliferative glomerulonephritis including C3 glomerulopathy v2.27 | DGKE | Eleanor Williams Added comment: Comment on mode of inheritance: Changing the MOI to BIALLELIC, autosomal or pseudoautosomal as per the signed off version 2.13 (Oct 2020) and as agreed with NHSE. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Membranoproliferative glomerulonephritis including C3 glomerulopathy v2.27 | DGKE | Eleanor Williams Mode of inheritance for gene: DGKE was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Membranoproliferative glomerulonephritis including C3 glomerulopathy v2.21 | DGKE | Eleanor Williams Tag to_be_confirmed_NHSE tag was added to gene: DGKE. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Membranoproliferative glomerulonephritis including C3 glomerulopathy v2.16 | DGKE | Eleanor Williams Added comment: Comment on mode of inheritance: Reverting the mode of inheritance to BOTH monalllelic and biallelic to reflect the signed off version in March 2020. However, the recommendation is to change this to just BIALLELIC, following GMS review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Membranoproliferative glomerulonephritis including C3 glomerulopathy v2.16 | DGKE | Eleanor Williams Mode of inheritance for gene: DGKE was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Membranoproliferative glomerulonephritis including C3 glomerulopathy v2.15 | DGKE | Eleanor Williams Tag for-review tag was added to gene: DGKE. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Membranoproliferative glomerulonephritis including C3 glomerulopathy v2.9 | DGKE | Eleanor Williams Added comment: Comment on mode of inheritance: Changing MOI to Biallelic only. All reported cases are homozygous. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Membranoproliferative glomerulonephritis including C3 glomerulopathy v2.9 | DGKE | Eleanor Williams Mode of inheritance for gene: DGKE was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Membranoproliferative glomerulonephritis including C3 glomerulopathy v2.2 | DGKE |
Eleanor Williams edited their review of gene: DGKE: Added comment: Recent review by Daniel Gale rates the gene green so no change in rating. Checking mode of inheritance: PMID: 23274426 - Ozaltin et al 2013 - 3 consanguineous families - 3 different homozygous variants in 9 individuals. PMID: 28526779 - Azukaitis et al 2017 - review of 24 patients with aHUS/MPGN and variants in DGKE. The 9 cases with MPGN-like renal biopsies are those reported in Ozaltin et al 2013 Other papers cited by BRIDGE review are related to aHUS only (PMID: 23542698 and 21902819) OMIM lists the mode of inheritance for Nephrotic syndrome, type 7, #615008 as AR. Therefore, the mode of inheritance should be updated to BIALLELIC only.; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal |
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Membranoproliferative glomerulonephritis including C3 glomerulopathy v2.2 | DGKE | Daniel Gale reviewed gene: DGKE: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 23274426; Phenotypes: Proteinuria, membranoproliferative glomerulonephritis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Membranoproliferative glomerulonephritis including C3 glomerulopathy v1.5 | DGKE | Eleanor Williams reviewed gene: DGKE: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Membranoproliferative glomerulonephritis including C3 glomerulopathy v1.4 | DGKE |
Eleanor Williams Source NHS GMS was added to DGKE. Rating Changed from Green List (high evidence) to Green List (high evidence) |
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Membranoproliferative glomerulonephritis including C3 glomerulopathy | DGKE | Arianna Tucci marked DGKE as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Membranoproliferative glomerulonephritis including C3 glomerulopathy | DGKE | Arianna Tucci classified DGKE as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Membranoproliferative glomerulonephritis including C3 glomerulopathy | DGKE | Arianna Tucci marked DGKE as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Membranoproliferative glomerulonephritis including C3 glomerulopathy | DGKE | Arianna Tucci classified DGKE as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Membranoproliferative glomerulonephritis including C3 glomerulopathy | DGKE | BRIDGE consortium reviewed DGKE |