Lysosomal Storage Disorder
Gene: CTSF

CTSF (cathepsin F)
EnsemblGeneIds (GRCh38): ENSG00000174080
EnsemblGeneIds (GRCh37): ENSG00000174080
OMIM: 603539, Gene2Phenotype
CTSF is in 10 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Cathepsin is a member of the papain family of cysteine proteases. These enzymes represent a major component of the lysosomal proteolytic system.

PMID: 28749476 - 1 chet patient (missense, CNV) with FTD, onset at 37 years old.

PMID: 27668283 - 2 families with adult-onset neuronal ceroid lipofuscinosis and FTD. Onset in 20s-30s. Light and electron microscopy shows swollen neuronal perikarya and intraneuronal storage of polymorphic lipofuscin-like inclusions

PMID: 27524508 - 1 hom family (PTC) with early-onset Alzheimer disease
Created: 24 Jul 2020, 1:07 a.m. | Last Modified: 24 Jul 2020, 1:07 a.m.

Panel Version: 0.40

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Ceroid lipofuscinosis, neuronal, 13, Kufs type, MIM# 615362

Publications

Created: 24 Jul 2020, 1:07 a.m.
Last Modified: 24 Jul 2020, 1:07 a.m.
Panel version: 0.40

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Victorian Clinical Genetics Services

Phenotypes

Ceroid lipofuscinosis, neuronal, 13, Kufs type, MIM# 615362

OMIM

603539

Clinvar variants

Variants in CTSF

Penetrance

None

Publications

Panels with this gene