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BabyScreen+ newborn screening

Gene: CTSK

Red List (low 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)

Red List (low evidence)

Well established gene-disease association.

Childhood onset.

No specific treatment.
Created: 2 Nov 2022, 9:45 p.m. | Last Modified: 2 Nov 2022, 9:45 p.m.
Panel Version: 0.787

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Pycnodysostosis - MIM#265800

History Filter Activity

2 Nov 2022, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ctsk has been classified as Red List (Low Evidence).

2 Nov 2022, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: CTSK were changed from Pycnodysostosis to Pycnodysostosis - MIM#265800

2 Nov 2022, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ctsk has been classified as Red List (Low Evidence).

18 Sep 2022, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: CTSK was added gene: CTSK was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: CTSK was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CTSK were set to Pycnodysostosis