PAX3 Chromosome 2
Paired box 3
Upload your DNA to see your personal genotypes for variants in PAX3.
What This Gene Does
This gene is a member of the paired box (PAX) family of transcription factors. Members of the PAX family typically contain a paired box domain and a paired-type homeodomain. These genes play critical roles during fetal development. Mutations in paired box gene 3 are associated with Waardenburg syndrome, craniofacial-deafness-hand syndrome, and alveolar rhabdomyosarcoma. The translocation t(2;13)(q35;q14), which represents a fusion between PAX3 and the forkhead gene, is a frequent finding in alveolar rhabdomyosarcoma. Alternative splicing results in transcripts encoding isoforms with different C-termini. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
"PRD class homeoboxes and pseudogenes|Paired boxes"
Locus Type
gene with protein product
Location
2q36.1
Ensembl
ENSG00000135903
Associated Conditions (14)
Waardenburg syndrome type 1
Craniofacial-deafness-hand syndrome
Alveolar rhabdomyosarcoma
Waardenburg syndrome type 3
Waardenburg syndrome
Usher syndrome
PAX3-related disorder
Inborn genetic diseases
Hearing impairment
Congenital diaphragmatic hernia
Intellectual disability
Rare genetic deafness
Ocular albinism with congenital sensorineural hearing loss
See cases
Key Variants
RS1379006499
Conflicting classifications of pathogenicity
Waardenburg syndrome type 1, Waardenburg syndrome type 1
Health Risk
RS148454691
Conflicting classifications of pathogenicity
Craniofacial-deafness-hand syndrome, Alveolar rhabdomyosarcoma, Waardenburg syndrome type 1
Health Risk
RS151199924
Conflicting classifications of pathogenicity
Craniofacial-deafness-hand syndrome, Waardenburg syndrome, Usher syndrome
Health Risk
RS185119406
Conflicting classifications of pathogenicity
Waardenburg syndrome, Craniofacial-deafness-hand syndrome, Waardenburg syndrome
Health Risk
RS199560470
Conflicting classifications of pathogenicity
PAX3-related disorder, PAX3-related disorder
Health Risk
RS200679164
Conflicting classifications of pathogenicity
Craniofacial-deafness-hand syndrome, Waardenburg syndrome type 3, Alveolar rhabdomyosarcoma
Health Risk
RS200701839
Conflicting classifications of pathogenicity
Craniofacial-deafness-hand syndrome, Waardenburg syndrome, Hearing impairment
Health Risk
RS2234675
Conflicting classifications of pathogenicity
Congenital diaphragmatic hernia, Waardenburg syndrome, Craniofacial-deafness-hand syndrome
Health Risk
RS374429328
Conflicting classifications of pathogenicity
Waardenburg syndrome, Craniofacial-deafness-hand syndrome, Waardenburg syndrome
Health Risk
RS376147620
Conflicting classifications of pathogenicity
Waardenburg syndrome, Craniofacial-deafness-hand syndrome, Waardenburg syndrome
Health Risk
RS387906947
Conflicting classifications of pathogenicity
Waardenburg syndrome type 1, Waardenburg syndrome type 1, Waardenburg syndrome type 1
Health Risk
RS747502205
Conflicting classifications of pathogenicity
Waardenburg syndrome, Craniofacial-deafness-hand syndrome, Waardenburg syndrome
Health Risk
All Variants (128)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2469252662 | Health Risk | Likely pathogenic | PAX3-related disorder, PAX3-related disorder |
| RS2469285416 | Health Risk | Likely pathogenic | Waardenburg syndrome type 1, Waardenburg syndrome type 1 |
| RS2469471076 | Health Risk | Likely pathogenic | — |
| RS2469478626 | Health Risk | Likely pathogenic | — |
| RS2469479413 | Health Risk | Likely pathogenic | — |
| RS587776586 | Health Risk | Likely pathogenic | Waardenburg syndrome type 1, Waardenburg syndrome type 1 |
| RS773327091 | Health Risk | Likely pathogenic | Waardenburg syndrome type 1, Intellectual disability, Waardenburg syndrome type 1 |
| RS777297575 | Health Risk | Likely pathogenic | Waardenburg syndrome type 3, Rare genetic deafness, Waardenburg syndrome type 1 |
| RS104893650 | Health Risk | Pathogenic | Waardenburg syndrome type 1, Waardenburg syndrome type 1 |
| RS104893651 | Health Risk | Pathogenic | Waardenburg syndrome type 3, Waardenburg syndrome type 1, Waardenburg syndrome type 3 |
| RS104893654 | Health Risk | Pathogenic | Waardenburg syndrome type 3, Waardenburg syndrome type 3 |
| RS1220219700 | Health Risk | Pathogenic | — |
| RS1228590199 | Health Risk | Pathogenic | Waardenburg syndrome type 1, Waardenburg syndrome type 1 |
| RS1380858784 | Health Risk | Pathogenic | Waardenburg syndrome type 1, Waardenburg syndrome, Inborn genetic diseases |
| RS1461573611 | Health Risk | Pathogenic | — |
| RS147111779 | Health Risk | Pathogenic | Waardenburg syndrome type 1, Waardenburg syndrome type 1 |
| RS1553594600 | Health Risk | Pathogenic | — |
| RS1559264524 | Health Risk | Pathogenic | — |
| RS1559316535 | Health Risk | Pathogenic | Waardenburg syndrome type 1, Waardenburg syndrome type 1 |
| RS1559316542 | Health Risk | Pathogenic | Waardenburg syndrome type 1, Waardenburg syndrome type 1 |
| RS1559318494 | Health Risk | Pathogenic | Waardenburg syndrome type 3, Waardenburg syndrome type 3 |
| RS1559318562 | Health Risk | Pathogenic | Waardenburg syndrome type 1, Waardenburg syndrome type 1 |
| RS1559320252 | Health Risk | Pathogenic | Waardenburg syndrome type 1, Waardenburg syndrome type 1 |
| RS1559320436 | Health Risk | Pathogenic | Waardenburg syndrome type 1, Waardenburg syndrome type 1 |
| RS1574646155 | Health Risk | Pathogenic | Waardenburg syndrome type 1, Waardenburg syndrome type 1 |
| RS1574661904 | Health Risk | Pathogenic | Ocular albinism with congenital sensorineural hearing loss, Ocular albinism with congenital sensorineural hearing loss |
| RS1574662128 | Health Risk | Pathogenic | — |
| RS1574775376 | Health Risk | Pathogenic | — |
| RS1692180906 | Health Risk | Pathogenic | Waardenburg syndrome type 1, Waardenburg syndrome type 1 |
| RS1692621563 | Health Risk | Pathogenic | — |
| RS1692623308 | Health Risk | Pathogenic | Waardenburg syndrome type 1, Waardenburg syndrome type 1 |
| RS1695337485 | Health Risk | Pathogenic | Waardenburg syndrome type 1, Waardenburg syndrome type 1 |
| RS1695346408 | Health Risk | Pathogenic | Waardenburg syndrome type 1, Waardenburg syndrome type 1 |
| RS2106072248 | Health Risk | Pathogenic | — |
| RS2106074168 | Health Risk | Pathogenic | — |
| RS2106074565 | Health Risk | Pathogenic | Waardenburg syndrome type 3, Waardenburg syndrome type 3 |
| RS2106094950 | Health Risk | Pathogenic | Craniofacial-deafness-hand syndrome, Craniofacial-deafness-hand syndrome |
| RS2106095147 | Health Risk | Pathogenic | Waardenburg syndrome type 1, Waardenburg syndrome type 1 |
| RS2106196576 | Health Risk | Pathogenic | Waardenburg syndrome type 1, Waardenburg syndrome type 1 |
| RS2106196885 | Health Risk | Pathogenic | — |
| RS2106196907 | Health Risk | Pathogenic | — |
| RS2106200388 | Health Risk | Pathogenic | Waardenburg syndrome type 1, Waardenburg syndrome, Waardenburg syndrome type 1 |
| RS2106200406 | Health Risk | Pathogenic | Waardenburg syndrome type 1, Waardenburg syndrome type 1 |
| RS2106203729 | Health Risk | Pathogenic | — |
| RS2106203978 | Health Risk | Pathogenic | — |
| RS2106204266 | Health Risk | Pathogenic | Waardenburg syndrome type 1, Waardenburg syndrome type 1 |
| RS2469197157 | Health Risk | Pathogenic | — |
| RS2469252164 | Health Risk | Pathogenic | — |
| RS2469252725 | Health Risk | Pathogenic | — |
| RS2469252734 | Health Risk | Pathogenic | — |