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| Atypical Haemolytic Uraemic Syndrome_MPGN v0.43 | C3 | Zornitza Stark Marked gene: C3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Atypical Haemolytic Uraemic Syndrome_MPGN v0.43 | C3 | Zornitza Stark Gene: c3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Atypical Haemolytic Uraemic Syndrome_MPGN v0.43 | C3 | Zornitza Stark Phenotypes for gene: C3 were changed from to {Hemolytic uremic syndrome, atypical, susceptibility to, 5}, MIM# 612925 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Atypical Haemolytic Uraemic Syndrome_MPGN v0.42 | C3 | Zornitza Stark Publications for gene: C3 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Atypical Haemolytic Uraemic Syndrome_MPGN v0.41 | C3 | Zornitza Stark Mode of inheritance for gene: C3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Atypical Haemolytic Uraemic Syndrome_MPGN v0.40 | C3 | Zornitza Stark reviewed gene: C3: Rating: GREEN; Mode of pathogenicity: None; Publications: 18796626, 34248927, 33691638; Phenotypes: {Hemolytic uremic syndrome, atypical, susceptibility to, 5}, MIM# 612925; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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 v0.0 | C3 |
Zornitza Stark gene: C3 was added gene: C3 was added to Atypical Haemolytic Uraemic Syndrome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: C3 was set to Unknown |
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