Familial rhabdomyosarcoma
Gene: PAX3EnsemblGeneIds (GRCh38): ENSG00000135903
EnsemblGeneIds (GRCh37): ENSG00000135903
OMIM: 606597, Gene2Phenotype
PAX3 is in 14 panels
1 review
Helen Brittain (Genomics England Curator)
Somatic events including gene fusions reported in pathogenesisCreated: 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
-
- Limb disorders
- Sarcoma susceptibility
- DDG2P
- Sarcoma cancer susceptibility
- Structural eye disease
- Monogenic hearing loss
- Skeletal dysplasia
- Fetal anomalies
- Clefting
- Pigmentary skin disorders
- Rare syndromic craniosynostosis or isolated multisuture synostosis
- Osteogenesis imperfecta
- Familial rhabdomyosarcoma
- Intellectual disability
History Filter Activity
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.
Gene classified by Genomics England curator
Louise Daugherty (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
Set Phenotypes
Louise Daugherty (Genomics England Curator)Phenotypes for PAX3 were set to Rhabdomyosarcoma, alveolar, 268220
Set publications
Louise Daugherty (Genomics England Curator)Publications for PAX3 were set to 25768946
Set mode of inheritance
Louise Daugherty (Genomics England Curator)Mode of inheritance for PAX3 was changed from to Other - please specifiy in evaluation comments
Added New Source
Eik Haraldsdottir (Genomics England)PAX3 was added to Familial rhabdomyosarcoma panel. Sources: Radboud University Medical Center, Nijmegen