Fetal anomalies
Gene: PAX3

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

1 review

Rebecca Foulger (Genomics England curator)

Green List (high evidence)

This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.
Created: 4 Apr 2019, 10:28 a.m.

DDG2P rating in original PAGE list: Confirmed for WAARDENBURG SYNDROME, TYPE 1 and Confirmed for CRANIOFACIAL-DEAFNESS-HAND SYNDROME.
Created: 11 Dec 2018, 9:05 a.m.

Created: 11 Dec 2018, 9:05 a.m.

Panel version: 0.153

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Sources

PAGE DD-Gene2Phenotype
Expert Review Green

Phenotypes

WAARDENBURG SYNDROME, TYPE 1
CRANIOFACIAL-DEAFNESS-HAND SYNDROME

OMIM

606597

Clinvar variants

Variants in PAX3

Penetrance

None

Panels with this gene

History Filter Activity

8 Nov 2018, Gel status: 4

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Added phenotypes CRANIOFACIAL-DEAFNESS-HAND SYNDROME for gene: PAX3

8 Nov 2018, Gel status: 4

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

Rebecca Foulger (Genomics England curator)

gene: PAX3 was added gene: PAX3 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: PAX3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: PAX3 were set to WAARDENBURG SYNDROME, TYPE 1

Fetal anomalies Gene: PAX3