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Severe Paediatric Disorders v0.17 CFHR5 Louise Daugherty Mode of inheritance for gene CFHR5 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.17 CFH Louise Daugherty Mode of inheritance for gene CFH was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.12 CFHR4 Louise Daugherty reviewed gene: CFHR4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 CFHR3 Louise Daugherty reviewed gene: CFHR3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 CFHR2 Louise Daugherty reviewed gene: CFHR2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 CFHR1 Louise Daugherty reviewed gene: CFHR1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 CFHR5 Louise Daugherty reviewed gene: CFHR5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 CFH Louise Daugherty reviewed gene: CFH: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.11 CFHR4 Louise Daugherty Publications for gene CFHR4 were updated from to 30847515
Severe Paediatric Disorders v0.11 CFHR3 Louise Daugherty Publications for gene CFHR3 were updated from to 30847515
Severe Paediatric Disorders v0.11 CFHR2 Louise Daugherty Publications for gene CFHR2 were updated from to 30847515
Severe Paediatric Disorders v0.11 CFHR1 Louise Daugherty Publications for gene CFHR1 were updated from to 30847515
Severe Paediatric Disorders v0.11 CFHR5 Louise Daugherty Publications for gene CFHR5 were updated from to 30847515
Severe Paediatric Disorders v0.11 CFH Louise Daugherty Publications for gene CFH were updated from to 30847515
Severe Paediatric Disorders v0.10 CFHR4 Louise Daugherty Added phenotypes {Hemolytic uremic syndrome, atypical, susceptibility to}, 235400; {Macular degeneration, age-related, reduced risk of}, 603075 for gene: CFHR4
Severe Paediatric Disorders v0.10 CFHR2 Louise Daugherty Added phenotypes {Hemolytic uremic syndrome, atypical, susceptibility to}, 235400; {Macular degeneration, age-related, reduced risk of}, 603075 for gene: CFHR2
Severe Paediatric Disorders v0.10 CFHR1 Louise Daugherty Added phenotypes {Hemolytic uremic syndrome, atypical, susceptibility to, 2}, 612922 for gene: CFHR1
Severe Paediatric Disorders v0.10 CFHR5 Louise Daugherty Added phenotypes Nephropathy due to CFHR5 deficiency, 614809 for gene: CFHR5
Severe Paediatric Disorders v0.10 CFH Louise Daugherty Added phenotypes Basal laminar drusen, 126700; Complement factor H deficiency, 609814 for gene: CFH
Severe Paediatric Disorders v0.9 CFHR4 Louise Daugherty Added phenotypes {Hemolytic uremic syndrome, atypical, susceptibility to}, 235400; {Macular degeneration, age-related, reduced risk of}, 603075 for gene: CFHR4
Severe Paediatric Disorders v0.9 CFHR2 Louise Daugherty Added phenotypes {Hemolytic uremic syndrome, atypical, susceptibility to}, 235400; {Macular degeneration, age-related, reduced risk of}, 603075 for gene: CFHR2
Severe Paediatric Disorders v0.9 CFHR1 Louise Daugherty Added phenotypes {Hemolytic uremic syndrome, atypical, susceptibility to, 2}, 612922 for gene: CFHR1
Severe Paediatric Disorders v0.9 CFHR5 Louise Daugherty Added phenotypes Nephropathy due to CFHR5 deficiency, 614809 for gene: CFHR5
Severe Paediatric Disorders v0.9 CFH Louise Daugherty Added phenotypes Basal laminar drusen, 126700; Complement factor H deficiency, 609814 for gene: CFH
Severe Paediatric Disorders v0.9 CFHR4 Louise Daugherty Added phenotypes {Hemolytic uremic syndrome, atypical, susceptibility to}, 235400; {Macular degeneration, age-related, reduced risk of}, 603075 for gene: CFHR4
Severe Paediatric Disorders v0.9 CFHR2 Louise Daugherty Added phenotypes {Hemolytic uremic syndrome, atypical, susceptibility to}, 235400; {Macular degeneration, age-related, reduced risk of}, 603075 for gene: CFHR2
Severe Paediatric Disorders v0.9 CFHR1 Louise Daugherty Added phenotypes {Hemolytic uremic syndrome, atypical, susceptibility to, 2}, 612922 for gene: CFHR1
Severe Paediatric Disorders v0.9 CFHR5 Louise Daugherty Added phenotypes Nephropathy due to CFHR5 deficiency, 614809 for gene: CFHR5
Severe Paediatric Disorders v0.9 CFH Louise Daugherty Added phenotypes Basal laminar drusen, 126700; Complement factor H deficiency, 609814 for gene: CFH
Severe Paediatric Disorders v0.8 CFHR4 Louise Daugherty Added phenotypes {Macular degeneration, age-related, reduced risk of}, 603075; {Hemolytic uremic syndrome, atypical, susceptibility to}, 235400 for gene: CFHR4
Severe Paediatric Disorders v0.8 CFHR2 Louise Daugherty Added phenotypes {Macular degeneration, age-related, reduced risk of}, 603075; {Hemolytic uremic syndrome, atypical, susceptibility to}, 235400 for gene: CFHR2
Severe Paediatric Disorders v0.8 CFHR1 Louise Daugherty Added phenotypes {Hemolytic uremic syndrome, atypical, susceptibility to, 2}, 612922 for gene: CFHR1
Severe Paediatric Disorders v0.8 CFHR5 Louise Daugherty Added phenotypes Nephropathy due to CFHR5 deficiency, 614809 for gene: CFHR5
Severe Paediatric Disorders v0.8 CFH Louise Daugherty Added phenotypes Complement factor H deficiency, 609814; Basal laminar drusen, 126700 for gene: CFH
Severe Paediatric Disorders v0.8 CFHR4 Louise Daugherty Mode of inheritance for gene CFHR4 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added phenotypes {Hemolytic uremic syndrome, atypical, susceptibility to}, 235400; {Macular degeneration, age-related, reduced risk of}, 603075 for gene: CFHR4
Severe Paediatric Disorders v0.8 CFHR3 Louise Daugherty Mode of inheritance for gene CFHR3 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.8 CFHR2 Louise Daugherty Mode of inheritance for gene CFHR2 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added phenotypes {Hemolytic uremic syndrome, atypical, susceptibility to}, 235400; {Macular degeneration, age-related, reduced risk of}, 603075 for gene: CFHR2
Severe Paediatric Disorders v0.8 CFHR1 Louise Daugherty Mode of inheritance for gene CFHR1 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added phenotypes {Hemolytic uremic syndrome, atypical, susceptibility to, 2}, 612922 for gene: CFHR1
Severe Paediatric Disorders v0.7 CFHR4 Louise Daugherty Source Next Generation Children Project was added to CFHR4.
Severe Paediatric Disorders v0.7 CFHR3 Louise Daugherty Source Next Generation Children Project was added to CFHR3.
Severe Paediatric Disorders v0.7 CFHR2 Louise Daugherty Source Next Generation Children Project was added to CFHR2.
Severe Paediatric Disorders v0.7 CFHR1 Louise Daugherty Source Next Generation Children Project was added to CFHR1.
Severe Paediatric Disorders v0.7 CFHR5 Louise Daugherty Source Next Generation Children Project was added to CFHR5.
Severe Paediatric Disorders v0.7 CFH Louise Daugherty Source Next Generation Children Project was added to CFH.
Severe Paediatric Disorders v0.5 CFHR4 Louise Daugherty Source Expert Review Red was added to CFHR4.
Severe Paediatric Disorders v0.5 CFHR3 Louise Daugherty Source Expert Review Red was added to CFHR3.
Severe Paediatric Disorders v0.5 CFHR2 Louise Daugherty Source Expert Review Red was added to CFHR2.
Severe Paediatric Disorders v0.5 CFHR1 Louise Daugherty Source Expert Review Red was added to CFHR1.
Severe Paediatric Disorders v0.5 CFHR5 Louise Daugherty Source Expert Review Green was added to CFHR5.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Severe Paediatric Disorders v0.5 CFH Louise Daugherty Source Expert Review Green was added to CFH.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Severe Paediatric Disorders v0.4 CFHR4 Louise Daugherty gene: CFHR4 was added
gene: CFHR4 was added to Severe Paediatric Disorders. Sources: Expert list
Mode of inheritance for gene: CFHR4 was set to
Severe Paediatric Disorders v0.4 CFHR3 Louise Daugherty gene: CFHR3 was added
gene: CFHR3 was added to Severe Paediatric Disorders. Sources: Expert list
Mode of inheritance for gene: CFHR3 was set to
Severe Paediatric Disorders v0.4 CFHR2 Louise Daugherty gene: CFHR2 was added
gene: CFHR2 was added to Severe Paediatric Disorders. Sources: Expert list
Mode of inheritance for gene: CFHR2 was set to
Severe Paediatric Disorders v0.4 CFHR1 Louise Daugherty gene: CFHR1 was added
gene: CFHR1 was added to Severe Paediatric Disorders. Sources: Expert list
Mode of inheritance for gene: CFHR1 was set to
Severe Paediatric Disorders v0.4 CFHR5 Louise Daugherty gene: CFHR5 was added
gene: CFHR5 was added to Severe Paediatric Disorders. Sources: Expert list
Mode of inheritance for gene: CFHR5 was set to
Severe Paediatric Disorders v0.4 CFH Louise Daugherty gene: CFH was added
gene: CFH was added to Severe Paediatric Disorders. Sources: Expert list
Mode of inheritance for gene: CFH was set to