Osteopetrosis
Gene: CTSK
CTSK (cathepsin K)
EnsemblGeneIds (GRCh38): ENSG00000143387
EnsemblGeneIds (GRCh37): ENSG00000143387
OMIM: 601105, Gene2Phenotype
CTSK is in 11 panels
EnsemblGeneIds (GRCh38): ENSG00000143387
EnsemblGeneIds (GRCh37): ENSG00000143387
OMIM: 601105, Gene2Phenotype
CTSK is in 11 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
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Expert Review Green
- Phenotypes
-
- Pycnodysostosis OMIM:265800
- OMIM
- 601105
- Clinvar variants
- Variants in CTSK
- Penetrance
- None
- Panels with this gene
-
- Lysosomal storage disorder
- Childhood onset dystonia, chorea or related movement disorder
- Likely inborn error of metabolism
- Osteopetrosis
- DDG2P
- Intellectual disability
- Fetal anomalies
- Undiagnosed metabolic disorders
- Skeletal dysplasia
- Rare syndromic craniosynostosis or isolated multisuture synostosis
- Osteogenesis imperfecta
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