Genes in panel
Regions in panel
Prev Next

Mendeliome

Gene: DNASE1L3

Green List (high evidence)

DNASE1L3 (deoxyribonuclease 1 like 3)
EnsemblGeneIds (GRCh38): ENSG00000163687
EnsemblGeneIds (GRCh37): ENSG00000163687
OMIM: 602244, Gene2Phenotype
DNASE1L3 is in 3 panels

1 review

Krithika Murali (Victorian Clinical Genetics Services)

Six consanguineous families with paediatric-onset SLE reported initially, same homozygous mutation (founder); additional family identified in literature with different homozygous frameshift.
Created: 14 May 2022, 12:33 p.m. | Last Modified: 14 May 2022, 12:33 p.m.
Panel Version: 0.14291

Phenotypes
Systemic lupus erythematosus 16 - MIM#614420

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Systemic lupus erythematosus 16 - MIM#614420
OMIM
602244
Clinvar variants
Variants in DNASE1L3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 May 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: dnase1l3 has been classified as Green List (High Evidence).

20 May 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: DNASE1L3 were changed from to Systemic lupus erythematosus 16 - MIM#614420

20 May 2022, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: DNASE1L3 were set to

20 May 2022, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: DNASE1L3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: DNASE1L3 was added gene: DNASE1L3 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: DNASE1L3 was set to Unknown