Thoracic dystrophies

Gene: CEP290

Red List (low evidence)

CEP290 (centrosomal protein 290)
EnsemblGeneIds (GRCh38): ENSG00000198707
EnsemblGeneIds (GRCh37): ENSG00000198707
OMIM: 610142, Gene2Phenotype
CEP290 is in 26 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)

CEP290 was added to Thoracic dystrophiespanel. Sources: Emory Genetics Laboratory