| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Atypical Haemolytic Uraemic Syndrome_MPGN v0.38 | CFHR3 | Zornitza Stark Marked gene: CFHR3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Atypical Haemolytic Uraemic Syndrome_MPGN v0.38 | CFHR3 | Zornitza Stark Gene: cfhr3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Atypical Haemolytic Uraemic Syndrome_MPGN v0.38 | CFHR3 | Zornitza Stark Phenotypes for gene: CFHR3 were changed from to {Hemolytic uremic syndrome, atypical, susceptibility to} MIM#235400 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Atypical Haemolytic Uraemic Syndrome_MPGN v0.37 | CFHR3 | Zornitza Stark Publications for gene: CFHR3 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Atypical Haemolytic Uraemic Syndrome_MPGN v0.36 | CFHR3 | Zornitza Stark Mode of inheritance for gene: CFHR3 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Atypical Haemolytic Uraemic Syndrome_MPGN v0.35 | CFHR3 | Zornitza Stark Tag SV/CNV tag was added to gene: CFHR3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Atypical Haemolytic Uraemic Syndrome_MPGN v0.35 | CFHR3 | Zornitza Stark reviewed gene: CFHR3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: {Hemolytic uremic syndrome, atypical, susceptibility to} MIM#235400; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Atypical Haemolytic Uraemic Syndrome_MPGN v0.35 | CFHR1 | Zornitza Stark Marked gene: CFHR1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Atypical Haemolytic Uraemic Syndrome_MPGN v0.35 | CFHR1 | Zornitza Stark Gene: cfhr1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Atypical Haemolytic Uraemic Syndrome_MPGN v0.35 | CFHR1 | Zornitza Stark Phenotypes for gene: CFHR1 were changed from to {Hemolytic uremic syndrome, atypical, susceptibility to} MIM#235400 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Atypical Haemolytic Uraemic Syndrome_MPGN v0.34 | CFHR1 | Zornitza Stark Tag SV/CNV tag was added to gene: CFHR1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Atypical Haemolytic Uraemic Syndrome_MPGN v0.34 | CFHR1 | Zornitza Stark Publications for gene: CFHR1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Atypical Haemolytic Uraemic Syndrome_MPGN v0.33 | CFHR1 | Zornitza Stark Mode of inheritance for gene: CFHR1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Atypical Haemolytic Uraemic Syndrome_MPGN v0.32 | CFHR1 | Zornitza Stark reviewed gene: CFHR1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Atypical Haemolytic Uraemic Syndrome_MPGN v0.32 | CFHR3 | Elena Savva reviewed gene: CFHR3: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID:32424742; Phenotypes: {Hemolytic uremic syndrome, atypical, susceptibility to} MIM#235400, {Macular degeneration, age-related, reduced risk of} MIM#603075; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Atypical Haemolytic Uraemic Syndrome_MPGN v0.32 | CFHR1 | Elena Savva reviewed gene: CFHR1: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 32424742; Phenotypes: {Hemolytic uremic syndrome, atypical, susceptibility to} MIM#235400, {Macular degeneration, age-related, reduced risk of} MIM#603075; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Atypical Haemolytic Uraemic Syndrome_MPGN v0.14 | CFHR2 | Zornitza Stark Marked gene: CFHR2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Atypical Haemolytic Uraemic Syndrome_MPGN v0.14 | CFHR2 | Zornitza Stark Gene: cfhr2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Atypical Haemolytic Uraemic Syndrome_MPGN v0.14 | CFHR2 | Zornitza Stark Classified gene: CFHR2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Atypical Haemolytic Uraemic Syndrome_MPGN v0.14 | CFHR2 | Zornitza Stark Gene: cfhr2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Atypical Haemolytic Uraemic Syndrome_MPGN v0.13 | CFHR2 | Zornitza Stark Tag SV/CNV tag was added to gene: CFHR2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Atypical Haemolytic Uraemic Syndrome_MPGN v0.13 | CFHR2 |
Zornitza Stark gene: CFHR2 was added gene: CFHR2 was added to Atypical Haemolytic Uraemic Syndrome_KidGen_VCGS_RMH. Sources: Expert list Mode of inheritance for gene: CFHR2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: CFHR2 were set to 24334459; 23728178; 20800271 Phenotypes for gene: CFHR2 were set to C3 glomerulopathy; C3G; Immune complex MPGN; IC-MPGN Review for gene: CFHR2 was set to GREEN Added comment: Variants currently not detectable by NGS: the pathogenic mutations in CFHR5, CFHR1 and CFHR2 that are known to cause disease are all gene duplication/fusion/rearrangement events which all lead to the production of elongated proteins, see Gale, 20800271; Tortajada 23728178; Chen, 24334459. Sources: Expert list |
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| Atypical Haemolytic Uraemic Syndrome_MPGN v0.12 | CFHR5 | Zornitza Stark Tag SV/CNV tag was added to gene: CFHR5. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Atypical Haemolytic Uraemic Syndrome_MPGN v0.0 | CFHR5 |
Zornitza Stark gene: CFHR5 was added gene: CFHR5 was added to Atypical Haemolytic Uraemic Syndrome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: CFHR5 was set to Unknown |
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| Atypical Haemolytic Uraemic Syndrome_MPGN v0.0 | CFHR3 |
Zornitza Stark gene: CFHR3 was added gene: CFHR3 was added to Atypical Haemolytic Uraemic Syndrome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: CFHR3 was set to Unknown |
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| Atypical Haemolytic Uraemic Syndrome_MPGN v0.0 | CFHR1 |
Zornitza Stark gene: CFHR1 was added gene: CFHR1 was added to Atypical Haemolytic Uraemic Syndrome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: CFHR1 was set to Unknown |
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| Atypical Haemolytic Uraemic Syndrome_MPGN v0.0 | CFH |
Zornitza Stark gene: CFH was added gene: CFH was added to Atypical Haemolytic Uraemic Syndrome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: CFH was set to Unknown |
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