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| Atypical Haemolytic Uraemic Syndrome_MPGN v0.53 | C1GALT1C1 | Zornitza Stark Phenotypes for gene: C1GALT1C1 were changed from atypical hemolytic-uremic syndrome MONDO#0016244, C1GALT1C1-related to Haemolytic uraemic syndrome, atypical, 8, with rhizomelic short stature, MIM# 301110 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Atypical Haemolytic Uraemic Syndrome_MPGN v0.52 | C1GALT1C1 | Zornitza Stark Publications for gene: C1GALT1C1 were set to 36599939 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Atypical Haemolytic Uraemic Syndrome_MPGN v0.51 | C1GALT1C1 | Zornitza Stark edited their review of gene: C1GALT1C1: Changed publications: 37216524 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Atypical Haemolytic Uraemic Syndrome_MPGN v0.51 | C1GALT1C1 | Zornitza Stark Mode of inheritance for gene: C1GALT1C1 was changed from X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) to X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Atypical Haemolytic Uraemic Syndrome_MPGN v0.50 | C1GALT1C1 | Zornitza Stark Classified gene: C1GALT1C1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Atypical Haemolytic Uraemic Syndrome_MPGN v0.50 | C1GALT1C1 | Zornitza Stark Gene: c1galt1c1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Atypical Haemolytic Uraemic Syndrome_MPGN v0.49 | C1GALT1C1 | Zornitza Stark reviewed gene: C1GALT1C1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Hemolytic uremic syndrome, atypical, 8, with rhizomelic short stature, MIM# 301110; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Atypical Haemolytic Uraemic Syndrome_MPGN v0.49 | C1GALT1C1 | Ain Roesley edited their review of gene: C1GALT1C1: Changed phenotypes: atypical haemolytic-uremic syndrome MONDO#0016244, C1GALT1C1-related | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Atypical Haemolytic Uraemic Syndrome_MPGN v0.49 | C1GALT1C1 | Ain Roesley Marked gene: C1GALT1C1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Atypical Haemolytic Uraemic Syndrome_MPGN v0.49 | C1GALT1C1 | Ain Roesley Gene: c1galt1c1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Atypical Haemolytic Uraemic Syndrome_MPGN v0.49 | C1GALT1C1 |
Ain Roesley gene: C1GALT1C1 was added gene: C1GALT1C1 was added to Atypical Haemolytic Uraemic Syndrome_MPGN. Sources: Literature Mode of inheritance for gene: C1GALT1C1 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: C1GALT1C1 were set to 36599939 Phenotypes for gene: C1GALT1C1 were set to atypical hemolytic-uremic syndrome MONDO#0016244, C1GALT1C1-related Review for gene: C1GALT1C1 was set to RED gene: C1GALT1C1 was marked as current diagnostic Added comment: 1x male with de novo p.(Thr89Ile) which is absent in gnomAD v2 and v3 and has very high conservation Sources: Literature |
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