PATL2 gene related symptoms and diseases
All the information presented here about the PATL2 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,OMIM,NCBIGENE,ORPHANET, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to PATL2 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Infertility | Uncommon - Between 30% and 50% cases |
| Polycystic ovaries | Uncommon - Between 30% and 50% cases |
Rare diseases associated to PATL2 gene
Here you will find a list of rare diseases related to the PATL2. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
OOCYTE MATURATION DEFECT 4; OOMD4
Description
Oocyte maturation defects due to mutation in PATL2 show phenotypic variability, with some oocytes exhibiting maturation arrest at the germinal vesicle stage and others at the metaphase I stage. In some patients, a few oocytes progress to polar body I; those oocytes either undergo fertilization failure or, in those that are fertilized, early embryonic arrest (Chen et al., 2017).
Most common symptoms of OOCYTE MATURATION DEFECT 4; OOMD4
- Infertility
- Polycystic ovaries
More info about OOCYTE MATURATION DEFECT 4; OOMD4
SOURCES: OMIM
FEMALE INFERTILITY DUE TO OOCYTE MEIOTIC ARREST
Search interest in PATL2
Potential gene panels for PATL2 gene
PATL2 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the PATL2 gene.
More info about this panel United States.
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