Ophthalmological ciliopathies


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

1 review

Alice Gardham (Genomics England)

Comment when marking as ready: Retinitis pigmentosa not included in this panel
Created: 25 Jan 2017, 9:44 a.m.

History Filter Activity

8 Jul 2019, Gel status: 1

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

Ivone Leong (Genomics England Curator)

gene: TOPORS was added gene: TOPORS was added to Ophthalmological ciliopathies. Sources: Emory Genetics Laboratory,Expert Review Red Mode of inheritance for gene: TOPORS was set to Phenotypes for gene: TOPORS were set to Ciliopathies