Gene: CTSK

Green List (high evidence)

CTSK (cathepsin K)
EnsemblGeneIds (GRCh38): ENSG00000143387
EnsemblGeneIds (GRCh37): ENSG00000143387
OMIM: 601105, Gene2Phenotype
CTSK is in 12 panels

1 review

Eleanor Williams (Genomics England Curator)

This gene has been added to the panel as green on the recommendation of GMS specialist disease group experts.
Created: 20 Aug 2020, 4:32 p.m. | Last Modified: 20 Aug 2020, 4:32 p.m.
Panel Version: 0.3

History Filter Activity

15 Mar 2021, Gel status: 3

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Phenotypes for gene: CTSK were changed from Pycnodysostosis 265800 to Pycnodysostosis OMIM:265800

20 Aug 2020, Gel status: 3

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

Catherine Snow (Genomics England)

gene: CTSK was added gene: CTSK was added to Osteopetrosis. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: CTSK was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CTSK were set to Pycnodysostosis 265800