Autoinflammatory Disorders
Gene: DNASE1L3EnsemblGeneIds (GRCh38): ENSG00000163687
EnsemblGeneIds (GRCh37): ENSG00000163687
OMIM: 602244, Gene2Phenotype
DNASE1L3 is in 3 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Six consanguineous families with paediatric-onset SLE reported initially, same homozygous mutation (founder); additional family identified in literature with different homozygous frameshift.
Sources: Expert listCreated: 8 Jan 2020, 9:32 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Systemic lupus erythematosus 16, MIM# 614420
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert list
- Phenotypes
-
- Systemic lupus erythematosus 16, MIM# 614420
- OMIM
- 602244
- Clinvar variants
- Variants in DNASE1L3
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: dnase1l3 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: dnase1l3 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)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