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  3. PAX3
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Undiagnosed neurocutaneous disorders

Gene: PAX3

Green List (high evidence)
PAX3 (paired box 3)
EnsemblGeneIds (GRCh38): ENSG00000135903
EnsemblGeneIds (GRCh37): ENSG00000135903
OMIM: 606597, Gene2Phenotype
PAX3 is in 14 panels

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Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Waardenburg syndrome, type 1, 193500
  • Waardenburg Syndrome
  • Waardenburg Syndrome, Type 1
  • Waardenburg syndrome, type 3, 148820
OMIM
606597
Clinvar variants
Variants in PAX3
Penetrance
Complete
Panels with this gene

History Filter Activity

23 May 2017, Gel status: 3

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Phenotypes for PAX3 were set to Waardenburg syndrome, type 1, 193500; Waardenburg Syndrome; Waardenburg Syndrome, Type 1; Waardenburg syndrome, type 3, 148820

10 Dec 2015, Gel status: 3

Added New Source

Ellen McDonagh (Genomics England Curator)

PAX3 was added to Undiagnosed neurocutaneous disorderspanel. Source: UKGTN

10 Dec 2015, Gel status: 2

Set Mode of Inheritance, Added New Source

Ellen McDonagh (Genomics England Curator)

PAX3 was added to Undiagnosed neurocutaneous disorderspanel. Source: Illumina TruGenome Clinical Sequencing Services Model of inheritance for gene PAX3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

10 Dec 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

PAX3 was added to Undiagnosed neurocutaneous disorderspanel. Sources: Radboud University Medical Center, Nijmegen

10 Dec 2015, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

PAX3 was created by ellenmcdonagh