Bone Marrow Failure
Gene: DNASE2EnsemblGeneIds (GRCh38): ENSG00000105612
EnsemblGeneIds (GRCh37): ENSG00000105612
OMIM: 126350, Gene2Phenotype
DNASE2 is in 4 panels
2 reviews
Chirag Patel (Genetic Health Queensland)
Autoinflammatory-pancytopenia syndrome (AIPCS) is an autosomal recessive disorder characterized by severe anemia and thrombocytopenia apparent from early infancy, hepatosplenomegaly, and recurrent fevers associated with a hyperinflammatory state. Additional systemic features may include chronic diarrhea, proteinuria with renal disease, liver fibrosis with elevated liver enzymes, deforming arthropathy, and vasculitic skin lesions. Some patients may have motor delay or learning difficulties associated with subcortical white matter lesions on brain imaging.
Sources: Expert listCreated: 12 Dec 2023, 11:06 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Autoinflammatory-pancytopenia syndrome, MIM#619858
Publications
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert list
- Phenotypes
-
- Autoinflammatory-pancytopenia syndrome, MIM#619858
- OMIM
- 126350
- Clinvar variants
- Variants in DNASE2
- 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: dnase2 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Chirag Patel (Genetic Health Queensland)Gene: dnase2 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Chirag Patel (Genetic Health Queensland)gene: DNASE2 was added gene: DNASE2 was added to Bone Marrow Failure. Sources: Expert list Mode of inheritance for gene: DNASE2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DNASE2 were set to PMID: 29259162, 31775019 Phenotypes for gene: DNASE2 were set to Autoinflammatory-pancytopenia syndrome, MIM#619858 Review for gene: DNASE2 was set to GREEN gene: DNASE2 was marked as current diagnostic