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  2. Craniosynostosis
  3. CTSK
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Craniosynostosis

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Craniosynostosis described in some individuals.
Sources: Expert list
Created: 2 Jul 2020, 10:41 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Pycnodysostosis, MIM#265800

Publications

Created: 2 Jul 2020, 10:41 a.m.

Panel version: 0.86

History Filter Activity

2 Jul 2020, 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).

2 Jul 2020, 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).

2 Jul 2020, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: CTSK was added gene: CTSK was added to Craniosynostosis. Sources: Expert list Mode of inheritance for gene: CTSK was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CTSK were set to 21968522; 23175007 Phenotypes for gene: CTSK were set to Pycnodysostosis, MIM#265800 Review for gene: CTSK was set to GREEN