TBL1XR1 Chromosome 3
TBL1X/Y related 1
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What This Gene Does
This gene is a member of the WD40 repeat-containing gene family and shares sequence similarity with transducin (beta)-like 1X-linked (TBL1X). The protein encoded by this gene is thought to be a component of both nuclear receptor corepressor (N-CoR) and histone deacetylase 3 (HDAC 3) complexes, and is required for transcriptional activation by a variety of transcription factors. Mutations in these gene have been associated with some autism spectrum disorders, and one finding suggests that haploinsufficiency of this gene may be a cause of intellectual disability with dysmorphism. Mutations in this gene as well as recurrent translocations involving this gene have also been observed in some tumors. [provided by RefSeq, Mar 2016]
Gene Info
Gene Group
"WD repeat domain containing|NCoR/SMRT transcriptional repression complex subunits"
Locus Type
gene with protein product
Location
3q26.32
Ensembl
ENSG00000177565
Associated Conditions (15)
Pierpont syndrome
Intellectual disability
autosomal dominant 41
Inborn genetic diseases
TBL1XR1-related disorder
Gastric cancer
TBL1XR1-related neurodevelopmental disorders
including Pierpont syndrome
Complex neurodevelopmental disorder
See cases
TBL1XR1-related neurodevelopmental disorder
Malignant lymphoma
large B-cell
diffuse
Neurodevelopmental disorder
Key Variants
RS1064795585
Conflicting classifications of pathogenicity
Pierpont syndrome, Pierpont syndrome
Health Risk
RS1135401760
Conflicting classifications of pathogenicity
Intellectual disability, autosomal dominant 41, Pierpont syndrome
Health Risk
RS1282634331
Conflicting classifications of pathogenicity
Pierpont syndrome, Inborn genetic diseases, Pierpont syndrome
Health Risk
RS1553810255
Conflicting classifications of pathogenicity
Intellectual disability, autosomal dominant 41, Pierpont syndrome
Health Risk
RS1553815393
Conflicting classifications of pathogenicity
Inborn genetic diseases, Pierpont syndrome, Intellectual disability
Health Risk
RS1553816164
Conflicting classifications of pathogenicity
Pierpont syndrome, Pierpont syndrome
Health Risk
RS1716297832
Conflicting classifications of pathogenicity
Intellectual disability, Intellectual disability
Health Risk
RS2108437312
Conflicting classifications of pathogenicity
Intellectual disability, autosomal dominant 41, Intellectual disability
Health Risk
RS2473720066
Conflicting classifications of pathogenicity
TBL1XR1-related disorder, Pierpont syndrome, TBL1XR1-related disorder
Health Risk
RS372813783
Conflicting classifications of pathogenicity
Pierpont syndrome, Inborn genetic diseases, Pierpont syndrome
Health Risk
RS375411293
Conflicting classifications of pathogenicity
Intellectual disability, autosomal dominant 41, Pierpont syndrome
Health Risk
RS574703637
Conflicting classifications of pathogenicity
Pierpont syndrome, Pierpont syndrome
Health Risk
All Variants (102)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS755371824 | Health Risk | Pathogenic/Likely pathogenic | Intellectual disability, Pierpont syndrome, autosomal dominant 41 |
| RS878854401 | Health Risk | Pathogenic/Likely pathogenic | Intellectual disability, autosomal dominant 41, Pierpont syndrome |