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| Unexplained young onset end-stage renal disease v4.3 | CFHR2 | Achchuthan Shanmugasundram Tag Q4_23_promote_green was removed from gene: CFHR2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease v4.3 | CFHR2 | Arina Puzriakova reviewed gene: CFHR2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease v4.2 | CFHR2 |
Achchuthan Shanmugasundram Source Expert Review Green was added to CFHR2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Unexplained young onset end-stage renal disease v3.21 | CFHR2 | Achchuthan Shanmugasundram reviewed gene: CFHR2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: C3 glomerulopathy, Immune complex MPGN, Immune-complex-mediated MPGN, IC-MPGN, C3G; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease v3.17 | CFHR2 | Achchuthan Shanmugasundram Tag Q4_23_promote_green tag was added to gene: CFHR2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease v3.17 | CFHR2 |
Achchuthan Shanmugasundram gene: CFHR2 was added gene: CFHR2 was added to Unexplained young onset end-stage renal disease. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: CFHR2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: CFHR2 were set to Immune complex MPGN; IC-MPGN; C3 glomerulopathy; C3G; Immune-complex-mediated MPGN |
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| Unexplained young onset end-stage renal disease v0.42 | CFHR3 | Moin Saleem reviewed gene: CFHR3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease v0.42 | CFHR1 | Moin Saleem reviewed gene: CFHR1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease v0.41 | CFHR3 | Eleanor Williams reviewed gene: CFHR3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease v0.41 | CFHR1 | Eleanor Williams reviewed gene: CFHR1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease v0.40 | CFHR3 |
Eleanor Williams gene: CFHR3 was added gene: CFHR3 was added to Unexplained paediatric onset end-stage renal disease. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: CFHR3 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: CFHR3 were set to 16998489; 17367211 Phenotypes for gene: CFHR3 were set to Hemolytic uremic syndrome, atypical, susceptibility to 235400 |
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| Unexplained young onset end-stage renal disease v0.40 | CFHR1 |
Eleanor Williams gene: CFHR1 was added gene: CFHR1 was added to Unexplained paediatric onset end-stage renal disease. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: CFHR1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: CFHR1 were set to 20800271; 16998489; 23728178; 24172683; 27458560; 24334459; 17367211 Phenotypes for gene: CFHR1 were set to IC-MPGN; Immune-complex-mediated MPGN; C3 glomerulopathy; Immune complex MPGN; Hemolytic uremic syndrome, atypical, susceptibility to, 235400; C3G |
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| Unexplained young onset end-stage renal disease v0.5 | CFHR5 | Eleanor Williams Publications for gene: CFHR5 were set to PubMed: 20800271; 24067434 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease v0.4 | CFHR5 | Eleanor Williams Classified gene: CFHR5 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease v0.4 | CFHR5 | Eleanor Williams Gene: cfhr5 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease v0.2 | CFHR5 | Eleanor Williams reviewed gene: CFHR5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease v0.2 | CFH | Eleanor Williams reviewed gene: CFH: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease v0.1 | CFHR5 |
Eleanor Williams gene: CFHR5 was added gene: CFHR5 was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Red Mode of inheritance for gene: CFHR5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CFHR5 were set to PubMed: 20800271; 24067434 Phenotypes for gene: CFHR5 were set to Haematuria; macroscopic haematuria; kidney failure; C3 glomerulopathy |
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| Unexplained young onset end-stage renal disease v0.1 | CFH |
Eleanor Williams gene: CFH was added gene: CFH was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Green Mode of inheritance for gene: CFH was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: CFH were set to {Hemolytic uremic syndrome, atypical, susceptibility to, 1} 235400; Complement factor H deficiency 609814 |
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