immunodeficiency 31B
MONDO:0013427Mondo
Findings
No curated finding names immunodeficiency 31B 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.
- STAT1HGNC:11362
- Definitive · Ambry Genetics · Autosomal recessive · 2023
- Definitive · ClinGen · Autosomal recessive · 2024
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2021
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
- Limited · G2P · Autosomal recessive · 2025
Where it sits
Other names
2 names
Resolves to: immunodeficiency 31B
- Also called
- immunodeficiency type 31BSTAT1 deficiency