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Lysosomal Storage Disorder

Gene: CTSK

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

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Lysosomal enzyme.
Created: 24 Jul 2020, 6:17 a.m. | Last Modified: 24 Jul 2020, 6:17 a.m.
Panel Version: 0.51

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Pycnodysostosis, MIM# 265800

Created: 24 Jul 2020, 6:17 a.m.
Last Modified: 24 Jul 2020, 6:17 a.m.
Panel version: 0.51

Elena Savva (Victorian Clinical Genetics Services)

I don't know

OMIN: Cathepsin K a member of the papain family of cysteine proteinases, plays an important role in osteoclast function

PMID: 32667742 - analysis of cells affected by granular corneal dystrophy shows reduced CTSK protein and lysosomal defects.

PMID: 25725806: 1 family with pycnodysostosis. Protein described as a lysosomal cysteine protease

PMID: 25304337 - 1 patient with pycnodysostosis, described as a lysosomal storage disorder

Summary: disease is described as a lysosomal disorder but no cell studies on lysosome function or protein studies found.
Sources: Expert list
Created: 22 Jul 2020, 6:32 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Pycnodysostosis 265800

Publications

Created: 22 Jul 2020, 6:32 a.m.

Panel version: 0.5

History Filter Activity

24 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).

22 Jul 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ctsk has been classified as Amber List (Moderate Evidence).

22 Jul 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ctsk has been classified as Amber List (Moderate Evidence).

22 Jul 2020, Gel status: 0

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

Elena Savva (Victorian Clinical Genetics Services)

gene: CTSK was added gene: CTSK was added to Storage Disorder. Sources: Expert list Mode of inheritance for gene: CTSK was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CTSK were set to PMID: 32667742; 25725806; 25304337 Phenotypes for gene: CTSK were set to Pycnodysostosis 265800 Review for gene: CTSK was set to AMBER