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| Systemic Autoinflammatory Disease_Periodic Fever v1.28 | ARPC5 | Zornitza Stark Marked gene: ARPC5 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Systemic Autoinflammatory Disease_Periodic Fever v1.28 | ARPC5 | Zornitza Stark Gene: arpc5 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Systemic Autoinflammatory Disease_Periodic Fever v1.28 | ARPC5 | Zornitza Stark Classified gene: ARPC5 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Systemic Autoinflammatory Disease_Periodic Fever v1.28 | ARPC5 | Zornitza Stark Gene: arpc5 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Systemic Autoinflammatory Disease_Periodic Fever v1.27 | ARPC5 |
Zornitza Stark gene: ARPC5 was added gene: ARPC5 was added to Systemic Autoinflammatory Disease_Periodic Fever. Sources: Literature Mode of inheritance for gene: ARPC5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ARPC5 were set to 37349293; 37382373 Phenotypes for gene: ARPC5 were set to Immunodeficiency 133 with autoimmunity and autoinflammation, MIM# 620565 Review for gene: ARPC5 was set to GREEN Added comment: Four individuals from 3 families reported. In addition to recurrent infections, features of autoinflammation common: haemolytic anaemia, thrombocytopenia, hepatosplenomegaly, leukocytosis, neutrophilia, and elevated acute phase reactants. More variable systemic features may include coeliac disease or enteropathy, ileus, nephropathy, eczema, and dermatomyositis. Sources: Literature |
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