PQBP1 Chromosome X
Polyglutamine binding protein 1
Upload your DNA to see your personal genotypes for variants in PQBP1.
What This Gene Does
This gene encodes a nuclear polyglutamine-binding protein that is involved with transcription activation. The encoded protein contains a WW domain. Mutations in this gene have been found in patients with Renpenning syndrome 1 and other syndromes with X-linked cognitive disability. Multiple alternatively spliced transcript variants that encode different protein isoforms have been described for this gene.[provided by RefSeq, Nov 2009]
Gene Info
Gene Group
Spliceosomal B complex
Locus Type
gene with protein product
Location
Xp11.23
Ensembl
ENSG00000102103
Associated Conditions (13)
Renpenning syndrome
PQBP1-related disorder
Inborn genetic diseases
See cases
Thyroid cancer
nonmedullary
1
Intellectual disability
Mild intellectual disability
Microcephaly
Autism spectrum disorder
Hyperactivity
Delayed speech and language development
Key Variants
RS1047322213
Conflicting classifications of pathogenicity
Renpenning syndrome, PQBP1-related disorder, Renpenning syndrome
Health Risk
RS181088115
Conflicting classifications of pathogenicity
Health Risk
RS201489630
Conflicting classifications of pathogenicity
Renpenning syndrome, PQBP1-related disorder, Inborn genetic diseases
Health Risk
RS2147471872
Conflicting classifications of pathogenicity
See cases, See cases
Health Risk
RS375706327
Conflicting classifications of pathogenicity
Health Risk
RS781887441
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS781987043
Conflicting classifications of pathogenicity
Health Risk
RS782015028
Conflicting classifications of pathogenicity
Renpenning syndrome, Thyroid cancer, nonmedullary
Health Risk
RS782103312
Conflicting classifications of pathogenicity
Health Risk
RS782276356
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS782360331
Conflicting classifications of pathogenicity
Health Risk
RS782547972
Conflicting classifications of pathogenicity
Inborn genetic diseases, PQBP1-related disorder, Inborn genetic diseases
Health Risk
All Variants (41)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1047322213 | Health Risk | Conflicting classifications of pathogenicity | Renpenning syndrome, PQBP1-related disorder, Renpenning syndrome |
| RS181088115 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS201489630 | Health Risk | Conflicting classifications of pathogenicity | Renpenning syndrome, PQBP1-related disorder, Inborn genetic diseases |
| RS2147471872 | Health Risk | Conflicting classifications of pathogenicity | See cases, See cases |
| RS375706327 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS781887441 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS781987043 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS782015028 | Health Risk | Conflicting classifications of pathogenicity | Renpenning syndrome, Thyroid cancer, nonmedullary |
| RS782103312 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS782276356 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS782360331 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS782547972 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, PQBP1-related disorder, Inborn genetic diseases |
| RS782792216 | Health Risk | Conflicting classifications of pathogenicity | Renpenning syndrome, Renpenning syndrome |
| RS878853145 | Health Risk | Conflicting classifications of pathogenicity | Intellectual disability, Renpenning syndrome, Intellectual disability |
| RS907427275 | Health Risk | Conflicting classifications of pathogenicity | Mild intellectual disability, Inborn genetic diseases, Mild intellectual disability |
| RS1064795683 | Health Risk | Likely pathogenic | — |
| RS1557041239 | Health Risk | Likely pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS1602330420 | Health Risk | Likely pathogenic | Renpenning syndrome, Inborn genetic diseases, Renpenning syndrome |
| RS1602333390 | Health Risk | Likely pathogenic | Microcephaly, Microcephaly |
| RS2063344708 | Health Risk | Likely pathogenic | Renpenning syndrome, Renpenning syndrome |
| RS2063444025 | Health Risk | Likely pathogenic | Renpenning syndrome, Renpenning syndrome |
| RS2063451959 | Health Risk | Likely pathogenic | Renpenning syndrome, Autism spectrum disorder, Renpenning syndrome |
| RS2519613503 | Health Risk | Likely pathogenic | Renpenning syndrome, Renpenning syndrome |
| RS2519629641 | Health Risk | Likely pathogenic | Renpenning syndrome, Renpenning syndrome |
| RS606231196 | Health Risk | Likely pathogenic | Renpenning syndrome, Renpenning syndrome |
| RS1064796819 | Health Risk | Pathogenic | — |
| RS121917899 | Health Risk | Pathogenic | Renpenning syndrome, Renpenning syndrome |
| RS1602330603 | Health Risk | Pathogenic | — |
| RS1602332039 | Health Risk | Pathogenic | Renpenning syndrome, Renpenning syndrome |
| RS2147468376 | Health Risk | Pathogenic | Renpenning syndrome, Renpenning syndrome |
| RS2147474434 | Health Risk | Pathogenic | — |
| RS2147475642 | Health Risk | Pathogenic | Renpenning syndrome, Renpenning syndrome |
| RS2519618086 | Health Risk | Pathogenic | Renpenning syndrome, Renpenning syndrome |
| RS2519619667 | Health Risk | Pathogenic | Renpenning syndrome, Renpenning syndrome |
| RS2519625318 | Health Risk | Pathogenic | — |
| RS606231193 | Health Risk | Pathogenic | Renpenning syndrome, PQBP1-related disorder, Renpenning syndrome |
| RS606231197 | Health Risk | Pathogenic | Renpenning syndrome, Renpenning syndrome |
| RS1064796253 | Health Risk | Pathogenic/Likely pathogenic | — |
| RS1557041672 | Health Risk | Pathogenic/Likely pathogenic | Renpenning syndrome, PQBP1-related disorder, Intellectual disability |
| RS2147472456 | Health Risk | Pathogenic/Likely pathogenic | Renpenning syndrome, Renpenning syndrome |
| RS886044823 | Health Risk | Pathogenic/Likely pathogenic | — |