THOC6 Chromosome 16
THO complex subunit 6
Upload your DNA to see your personal genotypes for variants in THOC6.
What This Gene Does
This gene encodes a subunit of the multi-protein THO complex, which is involved in coordination between transcription and mRNA processing. The THO complex is a component of the TREX (transcription/export) complex, which is involved in transcription and export of mRNAs. A missense mutation in this gene is associated with a neurodevelopmental disorder called Beaulieu-Boycott-Innes syndrome. [provided by RefSeq, Dec 2016]
Gene Info
Gene Group
"WD repeat domain containing|THO complex"
Locus Type
gene with protein product
Location
16p13.3
Ensembl
ENSG00000131652
Associated Conditions (7)
Inborn genetic diseases
THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome
Intellectual disability
Dystonia
early-onset
and/or spastic paraplegia
THOC6-related disorder
Key Variants
RS138632121
Conflicting classifications of pathogenicity
Inborn genetic diseases, THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome, Intellectual disability
Health Risk
RS150940923
Conflicting classifications of pathogenicity
Inborn genetic diseases, THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome, Dystonia
Health Risk
RS200426926
Conflicting classifications of pathogenicity
Inborn genetic diseases, THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome, Dystonia
Health Risk
RS1335063379
Likely pathogenic
Health Risk
RS146682486
Likely pathogenic
THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome, THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome
Health Risk
RS1567415595
Likely pathogenic
THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome, THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome
Health Risk
RS2151134923
Likely pathogenic
THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome, THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome
Health Risk
RS2506465148
Likely pathogenic
THOC6-related disorder, THOC6-related disorder
Health Risk
RS587777030
Likely pathogenic
THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome, THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome
Health Risk
RS752674270
Likely pathogenic
Health Risk
RS754379725
Likely pathogenic
THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome, THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome
Health Risk
RS895532843
Likely pathogenic
THOC6-related disorder, THOC6-related disorder
Health Risk
All Variants (24)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS138632121 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome, Intellectual disability |
| RS150940923 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome, Dystonia |
| RS200426926 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome, Dystonia |
| RS1335063379 | Health Risk | Likely pathogenic | — |
| RS146682486 | Health Risk | Likely pathogenic | THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome, THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome |
| RS1567415595 | Health Risk | Likely pathogenic | THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome, THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome |
| RS2151134923 | Health Risk | Likely pathogenic | THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome, THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome |
| RS2506465148 | Health Risk | Likely pathogenic | THOC6-related disorder, THOC6-related disorder |
| RS587777030 | Health Risk | Likely pathogenic | THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome, THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome |
| RS752674270 | Health Risk | Likely pathogenic | — |
| RS754379725 | Health Risk | Likely pathogenic | THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome, THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome |
| RS895532843 | Health Risk | Likely pathogenic | THOC6-related disorder, THOC6-related disorder |
| RS1194408714 | Health Risk | Pathogenic | THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome, THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome |
| RS1567416845 | Health Risk | Pathogenic | THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome, THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome |
| RS2072826485 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS2072828521 | Health Risk | Pathogenic | — |
| RS374551434 | Health Risk | Pathogenic | THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome, THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome |
| RS578012528 | Health Risk | Pathogenic | THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome, THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome |
| RS763344375 | Health Risk | Pathogenic | Inborn genetic diseases, THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome, Inborn genetic diseases |
| RS773022351 | Health Risk | Pathogenic | THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome, THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome |
| RS1567415819 | Health Risk | Pathogenic/Likely pathogenic | THOC6-related disorder, THOC6-related disorder |
| RS199795381 | Health Risk | Pathogenic/Likely pathogenic | THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome, THOC6-related disorder, Intellectual disability |
| RS2072821846 | Health Risk | Pathogenic/Likely pathogenic | THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome, THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome |
| RS772533643 | Health Risk | Pathogenic/Likely pathogenic | THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome, THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome |