PAX3

paired box 3
OMIM: 606597, Gene2Phenotype

9 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 9 panels
Green PAX3 in Mendeliome Version 1.1902	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Craniofacial-deafness-hand syndrome (MIM#122880), AD 2 Waardenburg syndrome, type 1 (MIM#193500), AD Waardenburg syndrome, type 3 (MIM#148820), AD, AR
Green PAX3 in Deafness_IsolatedAndComplex Level 2: Hearing and ear disorders Version 1.194	review	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Deafness Flagship Victorian Clinical Genetics Services Phenotypes Waardenburg syndrome, type 1, MIM# 193500
Red PAX3 in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 0.6063	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Genetic Health Queensland Phenotypes Craniofacial-deafness-hand syndrome, MIM#122880 Waardenburg syndrome, type 1, MIM#193500 Waardenburg syndrome, type 3, MIM#148820
Green PAX3 in Skeletal dysplasia Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 0.285	review	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
Green PAX3 in Deafness_Isolated Level 2: Hearing and ear disorders Version 1.63	review	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
Green PAX3 in Additional findings_Paediatric Level 2: Screening Version 0.278	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Green Phenotypes Waardenburg syndrome
Green PAX3 in Clefting disorders Level 3: Dysmorphic disorders Level 2: Dysmorphic and congenital abnormality syndromes Version 0.252	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Phenotypes WAARDENBURG
Green PAX3 in Fetal anomalies Version 1.255	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Genetic Health Queensland Phenotypes Craniofacial-deafness-hand syndrome, MIM#122880 Waardenburg syndrome, type 1, MIM#193500 Waardenburg syndrome, type 3, MIM#148820
Green PAX3 in BabyScreen+ newborn screening Level 2: Screening Version 1.114	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green BabySeq Category A gene Phenotypes Waardenburg syndrome, type 1, OMIM 193500 Tags deafness