combined immunodeficiency due to RELA haploinsufficiency
MONDO:0035694Mondo
Findings
No curated finding names combined immunodeficiency due to RELA haploinsufficiency 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.
- RELAHGNC:9955
- Definitive · ClinGen · Autosomal dominant · 2023
Where it sits
- A kind of
Other names
1 name
Resolves to: combined immunodeficiency due to RELA haploinsufficiency
- Also called
- CID due to RELA haploinsufficiency