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BabyScreen+ newborn screening

Gene: PAX3

Green List (high evidence)

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

1 review

David Amor (Murdoch Children's Research Institute)

Green List (high evidence)

Gene-disease association: strong, Waardenburg syndrome type 1 (WS1) is an autosomal dominant auditory-pigmentary syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes; congenital sensorineural hearing loss; and 'dystopia canthorum,' the lateral displacement of the ocular inner canthi. The majority of probands have an affected parent.

Severity: moderate - Most commonly, hearing loss in WS1 is bilateral and profound

Age of onset: congenital

Non-molecular confirmatory testing: partial (audiology)

Treatment: HA, CI
Created: 2 Nov 2022, 12:17 a.m. | Last Modified: 2 Nov 2022, 12:17 a.m.
Panel Version: 0.719

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Waardenburg syndrome, type 1, OMIM 193500

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • BabySeq Category A gene
Phenotypes
  • Waardenburg syndrome, type 1, OMIM 193500
Tags
deafness
OMIM
606597
Clinvar variants
Variants in PAX3
Penetrance
None
Panels with this gene

History Filter Activity

29 Dec 2022, Gel status: 3

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag deafness tag was added to gene: PAX3.

2 Nov 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: pax3 has been classified as Green List (High Evidence).

2 Nov 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: PAX3 were changed from Waardenburg syndrome to Waardenburg syndrome, type 1, OMIM 193500

18 Sep 2022, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: PAX3 was added gene: PAX3 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: PAX3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: PAX3 were set to Waardenburg syndrome