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). Genetic Heterogeneity of Preimplantation Embryonic LethalityPreimplantation embryonic lethality-2 (PREMBL2 ) is caused by mutation in the PADI6 gene (OMIM ) on chromosome 1p36.

Most common symptoms of PREIMPLANTATION EMBRYONIC LETHALITY 1; PREMBL1

  • Infertility
  • Developmental stagnation


More info about PREIMPLANTATION EMBRYONIC LETHALITY 1; PREMBL1

SOURCES: OMIM


Potential gene panels for TLE6 gene

TLE6 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the TLE6 gene.

More info about this panel


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