TLE6 gene related symptoms and diseases
All the information presented here about the TLE6 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,HGNC,OMIM, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to TLE6 gene
Symptoms // Phenotype | % Cases |
---|---|
Infertility | Very Common - Between 80% and 100% cases |
Developmental stagnation | Very Common - Between 80% and 100% cases |
Rare diseases associated to TLE6 gene
Here you will find a list of rare diseases related to the TLE6. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
PREIMPLANTATION EMBRYONIC LETHALITY 1; PREMBL1
Alternate names
PREIMPLANTATION EMBRYONIC LETHALITY 1; PREMBL1 Is also known as prembl
Description
Maternal genes play a critical role in the very early stages of embryonic development because of the lag in transcribing genes derived from the male pronucleus. TLE6 mutations are a rare cause of human female-limited fertility and appear to represent the earliest known human embryonic lethality that is due to a single gene mutation. In affected women, ovulation proceeds normally and the retrieved oocytes appear normal, but zygote formation is severely impaired (Alazami et al., 2015).
Most common symptoms of PREIMPLANTATION EMBRYONIC LETHALITY 1; PREMBL1
- Infertility
- Developmental stagnation
More info about PREIMPLANTATION EMBRYONIC LETHALITY 1; PREMBL1
SOURCES: OMIM
Search interest in TLE6
Potential gene panels for TLE6 gene
TLE6 Panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the TLE6 gene.
More info about this panelIf you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like CHD8 ADIPOQ PCK2