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| Systemic Autoinflammatory Disease_Periodic Fever v0.94 | RC3H1 | Zornitza Stark Phenotypes for gene: RC3H1 were changed from Relapsing HLH to Relapsing HLH; Hemophagocytic lymphohistiocytosis, familial, 6, MIM# 618998 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Systemic Autoinflammatory Disease_Periodic Fever v0.93 | RC3H1 | Zornitza Stark edited their review of gene: RC3H1: Changed phenotypes: Relapsing HLH, Hemophagocytic lymphohistiocytosis, familial, 6 618998 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Systemic Autoinflammatory Disease_Periodic Fever v0.78 | RC3H1 | Zornitza Stark Classified gene: RC3H1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Systemic Autoinflammatory Disease_Periodic Fever v0.78 | RC3H1 | Zornitza Stark Gene: rc3h1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Systemic Autoinflammatory Disease_Periodic Fever v0.77 | RC3H1 |
Zornitza Stark changed review comment from: Single individual with bi-allelic LoF variant and relapsing HLH reported, some functional data. Sources: Literature; to: Single individual with bi-allelic LoF variant and relapsing HLH reported, some functional data including mouse model. Sources: Literature |
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| Systemic Autoinflammatory Disease_Periodic Fever v0.77 | RC3H1 | Zornitza Stark edited their review of gene: RC3H1: Changed rating: AMBER; Changed publications: 31636267, 15917799 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Systemic Autoinflammatory Disease_Periodic Fever v0.77 | RC3H1 | Zornitza Stark Marked gene: RC3H1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Systemic Autoinflammatory Disease_Periodic Fever v0.77 | RC3H1 | Zornitza Stark Gene: rc3h1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Systemic Autoinflammatory Disease_Periodic Fever v0.77 | RC3H1 |
Zornitza Stark gene: RC3H1 was added gene: RC3H1 was added to Systemic Autoinflammatory Disease_Periodic Fever. Sources: Literature Mode of inheritance for gene: RC3H1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RC3H1 were set to 31636267 Phenotypes for gene: RC3H1 were set to Relapsing HLH Review for gene: RC3H1 was set to RED Added comment: Single individual with bi-allelic LoF variant and relapsing HLH reported, some functional data. Sources: Literature |
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