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  3. CTSK
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Skeletal Dysplasia_Fetal

Gene: CTSK

Green List (high evidence)
CTSK (cathepsin K)
EnsemblGeneIds (GRCh38): ENSG00000143387
EnsemblGeneIds (GRCh37): ENSG00000143387
OMIM: 601105, Gene2Phenotype
CTSK is in 13 panels

1 review

Krithika Murali (Victorian Clinical Genetics Services)

Green List (high evidence)

~30% with prenatal onset short-limbed short stature
Sources: Literature, Expert list
Created: 19 Oct 2022, 7:11 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Pycnodysostosis - MIM#265800

Publications

Created: 19 Oct 2022, 7:11 a.m.

Panel version: 0.143

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Literature
Phenotypes
  • Pycnodysostosis - MIM#265800
OMIM
601105
Clinvar variants
Variants in CTSK
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 Oct 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ctsk has been classified as Green List (High Evidence).

20 Oct 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ctsk has been classified as Green List (High Evidence).

19 Oct 2022, Gel status: 0

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

Krithika Murali (Victorian Clinical Genetics Services)

gene: CTSK was added gene: CTSK was added to Skeletal Dysplasia_Fetal. Sources: Literature,Expert list Mode of inheritance for gene: CTSK was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CTSK were set to PMID: 33151655 Phenotypes for gene: CTSK were set to Pycnodysostosis - MIM#265800 Review for gene: CTSK was set to GREEN