dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema
MONDO:0008689Mondo
Findings
No curated finding names dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
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.
- PIEZO1HGNC:28993
- Strong · ClinGen · Autosomal dominant · 2023
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2023
- Strong · Laboratory for Molecular Medicine · Autosomal dominant · 2020
- Strong · PanelApp Australia · Autosomal dominant · 2025