Research panel - Severe Paediatric Disorders
Gene: PAX3

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

1 review

Louise Daugherty (Genomics England Curator)

I don't know

Initial gene list (NGC_genelist-20190823_GREEN_dis_moi_forCuration_20200211.xlsx) collated by Dr Courtney French (University of Cambridge University Hospital NHS Foundation), Dr Karyn Megy (Clinical Feedback Lead, NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation), Dr Alba Sanchis-Juan (NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation) and Lucy Raymond (Professor of Medical Genetics and Neurodevelopment, University of Cambridge University Hospital NHS Foundation). Submitted to the PanelApp resource January 2020 on behalf of the Next Generation Children Project, Addenbrookes' Hospital, Cambridge. Gene Symbol submitted: PAX3; Recommended initial gene rating: Green List (high evidence); Phenotypes: Craniofacial-deafness-hand syndrome, 122880 (3) | Rhabdomyosarcoma 2, alveolar, 268220 (3) | Waardenburg syndrome, type 1, 193500 (3) | Waardenburg syndrome, type 3, 148820 (3); Mode of inheritance: Autosomal dominant | Somatic mutation | Autosomal dominant | Autosomal recessive, Autosomal dominant
Created: 20 Feb 2020, 5:23 p.m. | Last Modified: 20 Feb 2020, 5:23 p.m.

Panel Version: 0.12

Created: 20 Feb 2020, 5:23 p.m.
Last Modified: 20 Feb 2020, 5:23 p.m.
Panel version: 0.12

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Sources

Next Generation Children Project
Expert Review Green
Expert list

Phenotypes

Rhabdomyosarcoma 2, alveolar, 268220
Waardenburg syndrome, type 3, 148820
Craniofacial-deafness-hand syndrome, 122880
Waardenburg syndrome, type 1, 193500

OMIM

606597

Clinvar variants

Variants in PAX3

Penetrance

None

Publications

30847515

Panels with this gene