Skeletal dysplasia
Gene: PAX3

PAX3 (paired box 3)
EnsemblGeneIds (GRCh38): ENSG00000135903
EnsemblGeneIds (GRCh37): ENSG00000135903
OMIM: 606597, Gene2Phenotype
PAX3 is in 9 panels

1 review

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

Created: 20 Aug 2020, 7:33 a.m.
Last Modified: 20 Aug 2020, 7:33 a.m.
Panel version: Imported from Mendeliome panel version 0.3850

Details

Mode of Inheritance

BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Sources

Expert Review Green
Illumina TruGenome Clinical Sequencing Services

Phenotypes

Waardenburg syndrome, type 3, 148820
Craniofacial-deafness-hand syndrome, 122880
Waardenburg syndrome, type 1, 193500

OMIM

606597

Clinvar variants

Variants in PAX3

Penetrance

None

Publications

Panels with this gene

History Filter Activity

17 Dec 2019, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: PAX3 was added gene: PAX3 was added to Skeletal dysplasia. Sources: Illumina TruGenome Clinical Sequencing Services,Expert Review Green Mode of inheritance for gene: PAX3 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: PAX3 were set to 7726174; 26443304; 12949970; 30173992; 8447316; 11683776; 6340503 Phenotypes for gene: PAX3 were set to Waardenburg syndrome, type 3, 148820; Craniofacial-deafness-hand syndrome, 122880; Waardenburg syndrome, type 1, 193500

Skeletal dysplasia Gene: PAX3