Vasculitis

Gene: DNASE1

Green List (high evidence)

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

Created: 23 Dec 2024, 2:48 a.m. | Last Modified: 23 Dec 2024, 2:50 a.m.

Panel Version: 0.86

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
infantile lupus

Publications

• 36444430
• 30008451
• 34161863
• 37804110

Red List (low evidence)

PMIDs 36444430 and 37804110 also refer to DNASE1L3. No additional evidence for DNASE1 identified.

Created: 27 Dec 2024, 3:13 a.m. | Last Modified: 27 Dec 2024, 3:13 a.m.

Panel Version: 0.86

Similarly PMID: 30008451 reports patient with DNASE1L3 variant rather than DNASE1 variant.

Created: 27 Dec 2024, 3:11 a.m. | Last Modified: 27 Dec 2024, 3:11 a.m.

Panel Version: 0.86

PMID 34161863: paper reports individual with DNASE1L3 deficiency. DNASE1L3 is already Green on the relevant panel.

Created: 27 Dec 2024, 3:10 a.m. | Last Modified: 27 Dec 2024, 3:10 a.m.

Panel Version: 0.86

Polymorphisms associated with SLE and autoimmune disease susceptibility

Created: 20 May 2022, 6:38 a.m. | Last Modified: 20 May 2022, 6:38 a.m.

Panel Version: 0.68

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
{Systemic lupus erythematosus, susceptibility to} - MIM#152700