oocyte maturation defect 2
MONDO:0021573Mondo
Findings
No curated finding names oocyte maturation defect 2 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any inherited oocyte maturation defect in which the cause of the disease is a mutation in the TUBB8 gene.
Definition from the Mondo Disease Ontology (MONDO:0021573), read 2026-09-29. CC BY 4.0.
Features
1 feature
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Female infertilityHPOHP:0008222
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.
- TUBB8HGNC:20773
- Definitive · Ambry Genetics · Semidominant · 2020
- Strong · Ambry Genetics · Autosomal dominant · 2025
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2023
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Limited · Ambry Genetics · Autosomal recessive · 2025
Where it sits
- A kind of
Other names
3 names
Resolves to: oocyte maturation defect 2
- Also called
- inherited oocyte maturation defect caused by mutation in TUBB8OOMD2TUBB8 inherited oocyte maturation defect