hereditary spherocytosis type 3
MONDO:0010053Mondo
Findings
No curated finding names hereditary spherocytosis type 3 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any hereditary spherocytosis in which the cause of the disease is a mutation in the SPTA1 gene.
Definition from the Mondo Disease Ontology (MONDO:0010053), read 2026-09-29. CC BY 4.0.
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- SPTA1HGNC:11272
- Definitive · Laboratory for Molecular Medicine · Autosomal recessive · 2020
- Strong · Ambry Genetics · Autosomal recessive · 2024
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2020
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
- A kind of
Other names
4 names
Resolves to: hereditary spherocytosis type 3
- Also called
- hereditary spherocytosis caused by mutation in SPTA1HS3SPH3SPTA1 hereditary spherocytosis