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| Membranoproliferative glomerulonephritis including C3 glomerulopathy v2.31 | CFHR5 |
Achchuthan Shanmugasundram Tag Q2_22_MOI was removed from gene: CFHR5. Tag Q2_22_NHS_review was removed from gene: CFHR5. |
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| Membranoproliferative glomerulonephritis including C3 glomerulopathy v2.31 | CFHR5 | Achchuthan Shanmugasundram Classified gene: CFHR5 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Membranoproliferative glomerulonephritis including C3 glomerulopathy v2.31 | CFHR5 | Achchuthan Shanmugasundram Gene: cfhr5 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Membranoproliferative glomerulonephritis including C3 glomerulopathy v2.30 | CFHR5 | Achchuthan Shanmugasundram commented on gene: CFHR5 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Membranoproliferative glomerulonephritis including C3 glomerulopathy v2.29 | CFHR5 |
Achchuthan Shanmugasundram Source NHS GMS was added to CFHR5. Mode of inheritance for gene CFHR5 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Rating Changed from Green List (high evidence) to Red List (low evidence) |
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| Membranoproliferative glomerulonephritis including C3 glomerulopathy v2.26 | CFHR5 | Eleanor Williams Tag Q2_22_NHS_review tag was added to gene: CFHR5. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Membranoproliferative glomerulonephritis including C3 glomerulopathy v2.26 | CFHR5 | Eleanor Williams Added comment: Comment on mode of inheritance: Daniel Gale confirms that the mode of inheritance should be monoallelic only. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Membranoproliferative glomerulonephritis including C3 glomerulopathy v2.26 | CFHR5 | Eleanor Williams Mode of inheritance for gene: CFHR5 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Membranoproliferative glomerulonephritis including C3 glomerulopathy v2.25 | CFHR5 | Eleanor Williams Phenotypes for gene: CFHR5 were changed from C3 glomerulopathy; C3G; Immune complex MPGN; IC-MPGN; Nephropathy due to CFHR5 deficiency,614809; Immune-complex-mediated MPGN; CFHR5 nephropathy to C3 glomerulopathy; C3G; Immune complex MPGN; IC-MPGN; Nephropathy due to CFHR5 deficiency, OMIM:614809; Immune-complex-mediated MPGN; CFHR5 nephropathy; Haematuria; Chronic Kidney Disease; Proteinuria; End stage renal disease | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Membranoproliferative glomerulonephritis including C3 glomerulopathy v2.24 | CFHR5 | Eleanor Williams Publications for gene: CFHR5 were set to 24172683; 20800271; 24067434; 23728178; 27458560; 21566112; 32928961; 22503529 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Membranoproliferative glomerulonephritis including C3 glomerulopathy v2.23 | CFHR5 | Eleanor Williams Added comment: Comment on mode of pathogenicity: Updating as per reviewer suggestion | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Membranoproliferative glomerulonephritis including C3 glomerulopathy v2.23 | CFHR5 | Eleanor Williams Mode of pathogenicity for gene: CFHR5 was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Membranoproliferative glomerulonephritis including C3 glomerulopathy v2.22 | CFHR5 | Daniel Gale reviewed gene: CFHR5: Rating: ; 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: PMID: 20800271, 21566112, 30844074, 28729035, 32928961, 24067434, 27490940, 33753502, 30197990, 24067434; Phenotypes: Haematuria, C3 glomerulopathy, Chronic Kidney Disease, Proteinuria, End stage renal disease; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Membranoproliferative glomerulonephritis including C3 glomerulopathy v2.22 | CFHR5 | Eleanor Williams Added comment: Comment on mode of inheritance: Leaving the mode of inheritance as Both mono and biallelic just now, but only monoallelic cases confirmed so recommending a change to this mode of inheritance. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Membranoproliferative glomerulonephritis including C3 glomerulopathy v2.22 | CFHR5 | Eleanor Williams Mode of inheritance for gene: CFHR5 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Membranoproliferative glomerulonephritis including C3 glomerulopathy v2.21 | CFHR5 | Eleanor Williams Tag Q2_22_MOI tag was added to gene: CFHR5. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Membranoproliferative glomerulonephritis including C3 glomerulopathy v2.21 | CFHR5 | Eleanor Williams reviewed gene: CFHR5: Rating: ; Mode of pathogenicity: None; Publications: 20800271, 22503529, 23402027, 24334459, 24067434, 34566977; Phenotypes: Nephropathy due to CFHR5 deficiency, OMIM:614809; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Membranoproliferative glomerulonephritis including C3 glomerulopathy v2.20 | CFHR5 | Sarah Leigh changed review comment from: PMID 22503529 reports a heterozygous 1bp insertion variant (rs565457964) in a child with Nephropathy due to CFHR5 deficiency OMIM:614809.; to: PMID 22503529 reports a heterozygous 1bp insertion variant (rs565457964) in a child with Nephropathy due to CFHR5 deficiency OMIM:614809 and persistent renal disease following a streptococcal infection. The variant was also seen in her unaffected mother and sister, which suggested that this variant is not sufficient to cause disease, but likely acts as a susceptibility factor for the development of glomerulonephritis. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Membranoproliferative glomerulonephritis including C3 glomerulopathy v2.20 | CFHR5 | Sarah Leigh commented on gene: CFHR5 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Membranoproliferative glomerulonephritis including C3 glomerulopathy v2.20 | CFHR5 | Sarah Leigh Publications for gene: CFHR5 were set to 24172683; 20800271; 24067434; 23728178; 27458560; 21566112; 32928961 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Membranoproliferative glomerulonephritis including C3 glomerulopathy v2.19 | CFHR5 | Sarah Leigh Publications for gene: CFHR5 were set to 24172683; 20800271; 24067434; 23728178; 27458560; 21566112; 32928961] | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Membranoproliferative glomerulonephritis including C3 glomerulopathy v2.18 | CFHR5 | Sarah Leigh Publications for gene: CFHR5 were set to 24172683; 20800271; 24067434; 23728178; 27458560; 21566112 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Membranoproliferative glomerulonephritis including C3 glomerulopathy v2.17 | CFHR5 | Sarah Leigh Publications for gene: CFHR5 were set to 24172683; 20800271; 24067434; 23728178; 27458560 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Membranoproliferative glomerulonephritis including C3 glomerulopathy | CFHR5 | Arianna Tucci marked CFHR5 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Membranoproliferative glomerulonephritis including C3 glomerulopathy | CFHR5 | Louise Daugherty classified CFHR5 as green | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Membranoproliferative glomerulonephritis including C3 glomerulopathy | CFHR5 | BRIDGE consortium reviewed CFHR5 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Membranoproliferative glomerulonephritis including C3 glomerulopathy | CFHR5 | Louise Daugherty reviewed CFHR5 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||