TLE6 Chromosome 19

TLE family member 6, subcortical maternal complex member
7 variants 7 Health Risk

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What This Gene Does
This gene encodes a member of the Groucho/ transducin-like Enhancer of split family of transcriptional co-repressors. The encoded protein is a component of the mammalian subcortical maternal complex, which is required for preimplantation development. In mouse, knock out of this gene results in cleavage-stage embryonic arrest resulting from defective cytoplasmic F-actin meshwork formation and asymmetric cell division. In human, an allelic variant in this gene is associated with preimplantation embryonic lethality. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2016]
Gene Info
Gene Group
"WD repeat domain containing|TLE family|Subcortical maternal complex"
Locus Type
gene with protein product
Location
19p13.3
Ensembl
ENSG00000104953
Associated Conditions (1)
Preimplantation embryonic lethality 1
Key Variants
All Variants (7)
RSID Category Clinical Significance Conditions
RS139657057 Health Risk Conflicting classifications of pathogenicity
RS752098612 Health Risk Likely pathogenic Preimplantation embryonic lethality 1, Preimplantation embryonic lethality 1
RS767222404 Health Risk Likely pathogenic Preimplantation embryonic lethality 1, Preimplantation embryonic lethality 1
RS994749504 Health Risk Likely pathogenic
RS1376982287 Health Risk Pathogenic Preimplantation embryonic lethality 1, Preimplantation embryonic lethality 1
RS765448750 Health Risk Pathogenic
RS776453307 Health Risk Pathogenic/Likely pathogenic Preimplantation embryonic lethality 1, Preimplantation embryonic lethality 1
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