Familial rhabdomyosarcoma

Gene: PAX3

Red List (low evidence)

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

1 review

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
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Rhabdomyosarcoma, alveolar, 268220
OMIM
606597
Clinvar variants
Variants in PAX3
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

21 Dec 2017, Gel status: 1

Panel promoted to version 1.0

Louise Daugherty (Genomics England Curator)

21st December 2017. Panel reviews were assessed, and panel was revised according to reviews and further curation by Helen Brittain.

21 Dec 2017, Gel status: 1

Gene classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

21 Dec 2017, Gel status: 1

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for PAX3 were set to Rhabdomyosarcoma, alveolar, 268220

21 Dec 2017, Gel status: 1

Set publications

Louise Daugherty (Genomics England Curator)

Publications for PAX3 were set to 25768946

21 Dec 2017, Gel status: 1

Set mode of inheritance

Louise Daugherty (Genomics England Curator)

Mode of inheritance for PAX3 was changed from to Other - please specifiy in evaluation comments

28 Jul 2015, Gel status: 1

Added New Source

Eik Haraldsdottir (Genomics England)

PAX3 was added to Familial rhabdomyosarcoma panel. Sources: Radboud University Medical Center, Nijmegen