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



More info about FEMALE INFERTILITY DUE TO OOCYTE MEIOTIC ARREST

SOURCES: ORPHANET


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


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like ODF3B

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