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Severe Paediatric Disorders

Gene: PAX3

Green List (high evidence)

PAX3 (paired box 3)
EnsemblGeneIds (GRCh38): ENSG00000135903
EnsemblGeneIds (GRCh37): ENSG00000135903
OMIM: 606597, Gene2Phenotype
PAX3 is in 15 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

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
Panels with this gene