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| Vasculitis v0.86 | DNASE1 | Zornitza Stark commented on gene: DNASE1: PMIDs 36444430 and 37804110 also refer to DNASE1L3. No additional evidence for DNASE1 identified. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Vasculitis v0.86 | DNASE1 | Zornitza Stark commented on gene: DNASE1: Similarly PMID: 30008451 reports patient with DNASE1L3 variant rather than DNASE1 variant. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Vasculitis v0.86 | DNASE1 | Zornitza Stark commented on gene: DNASE1: PMID 34161863: paper reports individual with DNASE1L3 deficiency. DNASE1L3 is already Green on the relevant panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Vasculitis v0.86 | DNASE1 |
Natasha Brown changed review comment from: PMID: 36444430 Three affected children from one family with HMZ deletion and functional validation (abstract only) PMID: 30008451 ES in cohort of SLE onset <5yo, 7unrelated cases, one of which has HMZ FS (c.289_290delAC/p.Thr97Ilefs*2) PMID: 34161863 Single patient (history of similarly affected sib) early onset lupus at 15m with HMZ (NM_004944.4: c.290_291delCA/p.Thr97Ilefs*2) PMID: 37804110 Animal model - Dnase1L3 defic causes lupus like phenotype in mice; to: PMID: 36444430 Three affected children from one family with HMZ deletion and functional validation (abstract only) PMID: 30008451 ES in cohort of SLE onset <5yo, 7unrelated cases, one of which has HMZ FS (c.289_290delAC/p.Thr97Ilefs*2) PMID: 34161863 Single patient (history of similarly affected sib) early onset lupus at 15m with HMZ (NM_004944.4: c.290_291delCA/p.Thr97Ilefs*2) PMID: 37804110 Animal model - Dnase1L3 defic causes lupus like phenotype in mice add to immunological disorders super panel |
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| Vasculitis v0.86 | DNASE1 |
Natasha Brown changed review comment from: PMID: 36444430 Three affected children from one family with HMZ deletion and functional validation (abstract only) PMID: 30008451 ES in cohort of SLE onset <5yo, 7unrelated cases, one of which has HMZ FS (c.289_290delAC/p.Thr97Ilefs*2) PMID: 34161863 Single patient (history of similarly affected sib) early onset lupus at 15m with HMZ (NM_004944.4: c.290_291delCA/p.Thr97Ilefs*2) PMID: 37804110 Animal model - Dnase1L3 defic causes lupus like phenotype in mice; to: PMID: 36444430 Three affected children from one family with HMZ deletion and functional validation (abstract only) PMID: 30008451 ES in cohort of SLE onset <5yo, 7unrelated cases, one of which has HMZ FS (c.289_290delAC/p.Thr97Ilefs*2) PMID: 34161863 Single patient (history of similarly affected sib) early onset lupus at 15m with HMZ (NM_004944.4: c.290_291delCA/p.Thr97Ilefs*2) PMID: 37804110 Animal model - Dnase1L3 defic causes lupus like phenotype in mice |
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| Vasculitis v0.0 | DNASE1L3 |
Zornitza Stark gene: DNASE1L3 was added gene: DNASE1L3 was added to Vasculitis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: DNASE1L3 was set to Unknown |
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