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| Bone Marrow Failure v1.91 | DNASE2 | Santosh Varughese reviewed gene: DNASE2: Rating: GREEN; Mode of pathogenicity: None; Publications: 29259162, 31775019; Phenotypes: Autoinflammatory-pancytopenia syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bone Marrow Failure v1.79 | DNASE2 | Zornitza Stark Marked gene: DNASE2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bone Marrow Failure v1.79 | DNASE2 | Zornitza Stark Gene: dnase2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bone Marrow Failure v1.69 | DNASE2 | Chirag Patel Classified gene: DNASE2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bone Marrow Failure v1.69 | DNASE2 | Chirag Patel Gene: dnase2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bone Marrow Failure v1.68 | DNASE2 |
Chirag Patel gene: DNASE2 was added gene: DNASE2 was added to Bone Marrow Failure. Sources: Expert list Mode of inheritance for gene: DNASE2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DNASE2 were set to PMID: 29259162, 31775019 Phenotypes for gene: DNASE2 were set to Autoinflammatory-pancytopenia syndrome, MIM#619858 Review for gene: DNASE2 was set to GREEN gene: DNASE2 was marked as current diagnostic Added comment: Autoinflammatory-pancytopenia syndrome (AIPCS) is an autosomal recessive disorder characterized by severe anemia and thrombocytopenia apparent from early infancy, hepatosplenomegaly, and recurrent fevers associated with a hyperinflammatory state. Additional systemic features may include chronic diarrhea, proteinuria with renal disease, liver fibrosis with elevated liver enzymes, deforming arthropathy, and vasculitic skin lesions. Some patients may have motor delay or learning difficulties associated with subcortical white matter lesions on brain imaging. Sources: Expert list |
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