Hereditary Pigmentary Disorders
Gene: PAX3
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 listCreated: 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
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
Gene: pax3 has been classified as Green List (High Evidence).
Gene: pax3 has been classified as Green List (High Evidence).
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