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Rare syndromic craniosynostosis or isolated multisuture synostosis

Gene: PAX3

Red List (low evidence)

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

2 reviews

Tracy Lester (Genetics laboratory, Oxford UK)

Red List (low evidence)

No CSS mentioned in cases on OMIM. ON Blueprint genetics CSS Panel. ; Review on behalf of Tracy Lester and Andrew Wilkie
Created: 5 Mar 2019, 11:33 a.m.

Craniofacial-deafness-hand syndrome; Waardenburg syndrome

Eleanor Williams (Genomics England Curator)

I don't know

This gene was part of an initial gene list collated by Tracy Lester, Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, February 2019 on behalf of the GMS Musculoskeletal Specialist Group; Gene symbol submitted: PAX3; Suggested initial gene rating: red
Created: 5 Mar 2019, 11:21 a.m.

History Filter Activity

11 May 2019, Gel status: 1

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Added phenotypes Waardenburg syndrome; Craniofacial-deafness-hand syndrome for gene: PAX3

5 Mar 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Eleanor Williams (Genomics England Curator)

gene: PAX3 was added gene: PAX3 was added to Craniosynostosis. Sources: NHS GMS Mode of inheritance for gene: PAX3 was set to