Hereditary Pigmentary Disorders

Gene: PAX3

Green List (high evidence)

PAX3 (paired box 3)
EnsemblGeneIds (GRCh38): ENSG00000135903
EnsemblGeneIds (GRCh37): ENSG00000135903
OMIM: 606597, Gene2Phenotype
PAX3 is in 10 panels

2 reviews

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

Heterozygous loss-of-function variants in this gene cause Waardenburg syndrome, which is characterised by deafness and pigmentation anomalies of eyes, hair, and skin.
Sources: Expert list
Created: 31 May 2025, 1:14 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Waardenburg syndrome MONDO:0018094

Publications

Variants in this GENE are reported as part of current diagnostic practice

Michelle Torres (Victorian Clinical Genetics Services)

Green List (high evidence)

Only Asn47Lys has been reported to cause craniofacial-deafness-hand syndrome, an alternative change on the same codon has been seen in Waardenburg syndrome (PMID: 20301703, NIH).

PMID: 30854529: Waardenburg syndrome is typically dominant, but has been reported in recessive cases which are more severe. The major difference in phenotypic expression between WS1 and WS3 is the prevalence of typical WS1 characteristics with upper extremity malformations in those with WS3.

No gen-phen correlation has been found for hearing loss (PMID: 20301703).
Created: 20 Aug 2020, 7:33 a.m. | Last Modified: 20 Aug 2020, 7:33 a.m.
Panel Version: 0.3850

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Craniofacial-deafness-hand syndrome (MIM#122880), AD 2; Rhabdomyosarcoma 2, alveolar (MIM#268220), SMu; Waardenburg syndrome, type 1 (MIM#193500), AD; Waardenburg syndrome, type 3 (MIM#148820), AD, AR

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Waardenburg syndrome MONDO:0018094
OMIM
606597
Clinvar variants
Variants in PAX3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

31 May 2025, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: pax3 has been classified as Green List (High Evidence).

31 May 2025, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: pax3 has been classified as Green List (High Evidence).

31 May 2025, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

gene: PAX3 was added gene: PAX3 was added to Hereditary Pigmentary Disorders. Sources: Expert list Mode of inheritance for gene: PAX3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PAX3 were set to 27759048; 7897628; 28690861; 30314436; 25932447 Phenotypes for gene: PAX3 were set to Waardenburg syndrome MONDO:0018094 Review for gene: PAX3 was set to GREEN gene: PAX3 was marked as current diagnostic