| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Systemic Autoinflammatory Disease_Periodic Fever v0.7 | DNASE1L3 | Zornitza Stark Marked gene: DNASE1L3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Systemic Autoinflammatory Disease_Periodic Fever v0.7 | DNASE1L3 | Zornitza Stark Gene: dnase1l3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Systemic Autoinflammatory Disease_Periodic Fever v0.7 | DNASE1L3 | Zornitza Stark Classified gene: DNASE1L3 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Systemic Autoinflammatory Disease_Periodic Fever v0.7 | DNASE1L3 | Zornitza Stark Gene: dnase1l3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Systemic Autoinflammatory Disease_Periodic Fever v0.6 | DNASE1L3 |
Zornitza Stark gene: DNASE1L3 was added gene: DNASE1L3 was added to Systemic autoinflammatory disease, Periodic fever_MelbourneGenomics_VCGS. Sources: Expert list Mode of inheritance for gene: DNASE1L3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DNASE1L3 were set to 22019780; 30008451 Phenotypes for gene: DNASE1L3 were set to Systemic lupus erythematosus 16, MIM# 614420 Review for gene: DNASE1L3 was set to GREEN Added comment: Six consanguineous families with paediatric-onset SLE reported initially, same homozygous mutation (founder); additional family identified in literature with different homozygous frameshift. Sources: Expert list |
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