Deafness_Isolated
Gene: PAX3

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

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Well established gene-disease association, DEFINITIVE by ClinGen. Rare reports of bi-allelic disease.
Created: 1 Oct 2020, 3:48 a.m. | Last Modified: 1 Oct 2020, 3:48 a.m.

Panel Version: 0.530

Mode of inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal

Phenotypes
Waardenburg syndrome, type 1, MIM# 193500

Publications

Created: 1 Oct 2020, 3:48 a.m.
Last Modified: 1 Oct 2020, 3:48 a.m.
Panel version: Imported from Deafness_IsolatedAndComplex panel version 0.530

Details

Mode of Inheritance

BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal

Sources

Expert Review Green
Victorian Clinical Genetics Services
Melbourne Genomics Health Alliance Deafness Flagship
Melbourne Genomics Health Alliance Deafness Flagship
Victorian Clinical Genetics Services

Phenotypes

Waardenburg syndrome, type 1, MIM# 193500

OMIM

606597

Clinvar variants

Variants in PAX3

Penetrance

None

Publications

Panels with this gene