TLE6 Chromosome 19
TLE family member 6, subcortical maternal complex member
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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
RS139657057
Conflicting classifications of pathogenicity
Health Risk
RS752098612
Likely pathogenic
Preimplantation embryonic lethality 1, Preimplantation embryonic lethality 1
Health Risk
RS767222404
Likely pathogenic
Preimplantation embryonic lethality 1, Preimplantation embryonic lethality 1
Health Risk
RS994749504
Likely pathogenic
Health Risk
RS1376982287
Pathogenic
Preimplantation embryonic lethality 1, Preimplantation embryonic lethality 1
Health Risk
RS765448750
Pathogenic
Health Risk
RS776453307
Pathogenic/Likely pathogenic
Preimplantation embryonic lethality 1, Preimplantation embryonic lethality 1
Health Risk
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 |