Thoracic dystrophies


Red List (low evidence)

TOPORS (TOP1 binding arginine/serine rich protein)
EnsemblGeneIds (GRCh38): ENSG00000197579
EnsemblGeneIds (GRCh37): ENSG00000197579
OMIM: 609507, Gene2Phenotype
TOPORS is in 8 panels

2 reviews

Melita Irving (Guy's and St Thomas' NHS Trust)

Red List (low evidence)

Hannah Mitchison (UCL and GOSH)

Red List (low evidence)

History Filter Activity

31 May 2017, Gel status: 1

panel promoted to version 1

Ellen McDonagh (Genomics England Curator)

31/05/2017: Panel revised after expert input, clinical review, and further curation. Ready to promote to version 1.

6 May 2015, Gel status: 1

Added New Source

Eik Haraldsdottir (Genomics England)

TOPORS was added to Thoracic dystrophiespanel. Sources: Emory Genetics Laboratory