Sarcoma susceptibility

Gene: PAX3

Red List (low evidence)

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

2 reviews

Ellen McDonagh (Genomics England Curator)

Red List (low evidence)

This gene was added to this panel after feedback from Laura King (Great Ormond Street Hospital, London) to include genes from the Familial rhabdomyosarcoma gene panel (code 290 version 1.4) and the Inherited predisposition to GIST gene panel (code 523, version 0.20). The highest rating for this gene from these two panels was Red, as captured here in this review.
Created: 13 Mar 2019, 2:56 p.m.

Mode of inheritance
Other - please specifiy in evaluation comments

Phenotypes
Rhabdomyosarcoma, alveolar, 268220

Publications

Helen Brittain (Genomics England Curator)

Red List (low evidence)

Somatic events including gene fusions reported in pathogenesis
Created: 21 Dec 2017, 10:34 a.m.

Mode of inheritance
Other - please specify in evaluation comments

Phenotypes
Rhabdomyosarcoma, alveolar, 268220

Publications

Details

Mode of Inheritance
Other - please specifiy in evaluation comments
Sources
  • NHS GMS
  • Expert Review Red
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Rhabdomyosarcoma, alveolar, 268220
OMIM
606597
Clinvar variants
Variants in PAX3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

1 Aug 2019, Gel status: 1

Added New Source

Rebecca Foulger (Genomics England curator)

Source NHS GMS was added to PAX3.

23 Jul 2019, Gel status: 1

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

Rebecca Foulger (Genomics England curator)

gene: PAX3 was added gene: PAX3 was added to Sarcoma susceptibility. Sources: Expert Review Red Mode of inheritance for gene: PAX3 was set to Other - please specifiy in evaluation comments Publications for gene: PAX3 were set to 25768946 Phenotypes for gene: PAX3 were set to Rhabdomyosarcoma, alveolar, 268220