46,XX sex reversal 1
MONDO:0100250Mondo
Findings
No curated finding names 46,XX sex reversal 1 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Genes
4 genes
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.
- SRYHGNC:11311
- Definitive · Ambry Genetics · X-linked · 2018
- Strong · PanelApp Australia · X-linked · 2025
- Supportive · Orphanet · Autosomal dominant · 2021
- NR5A1HGNC:7983
- Supportive · Orphanet · Autosomal dominant · 2021
- SOX3HGNC:11199
- Supportive · Orphanet · Autosomal dominant · 2021
- SOX9HGNC:11204
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
Other names
5 names
Resolves to: 46,XX sex reversal 1
- Also called
- 46,XX gonadal dysgenesis, complete, SRY-positive46,XX Sex reversal type 146,XX Sex reversal, SRY-positive46XX sex reversal 1, X-linked dominantSRXX1