Lysosomal storage disorder
Gene: CTSFEnsemblGeneIds (GRCh38): ENSG00000174080
EnsemblGeneIds (GRCh37): ENSG00000174080
OMIM: 603539, Gene2Phenotype
CTSF is in 8 panels
3 reviews
Achchuthan Shanmugasundram (Genomics England Curator)
The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.Created: 1 Feb 2023, 11:23 a.m. | Last Modified: 1 Feb 2023, 11:23 a.m.
Panel Version: 2.3
Sarah Leigh (Genomics England Curator)
Associated with relevant phenotype in OMIM, but not associated with phenotype in Gen2Phen. At least nine variants reported in at least seven unrelated cases.Created: 17 Mar 2021, 10:42 a.m. | Last Modified: 17 Mar 2021, 10:42 a.m.
Panel Version: 1.63
Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.Created: 17 Mar 2021, 10:34 a.m. | Last Modified: 17 Mar 2021, 10:34 a.m.
Panel Version: 1.63
Zornitza Stark (Australian Genomics)
Cathepsin is a member of the papain family of cysteine proteases, 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
Sources: Expert listCreated: 24 Jul 2020, 6:14 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Ceroid lipofuscinosis, neuronal, 13, Kufs type, MIM# 615362
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Expert Review Green
- Phenotypes
-
- Ceroid lipofuscinosis, neuronal, 13, Kufs type OMIM:615362
- neuronal ceroid lipofuscinosis 13 MONDO:0014147
- OMIM
- 603539
- Clinvar variants
- Variants in CTSF
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Removed Tag
Achchuthan Shanmugasundram (Genomics England Curator)Tag Q2_21_rating was removed from gene: CTSF.
Added New Source, Added New Source, Status Update
Achchuthan Shanmugasundram (Genomics England Curator)Source Expert Review Green was added to CTSF. Source NHS GMS was added to CTSF. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Set publications
Sarah Leigh (Genomics England Curator)Publications for gene: CTSF were set to 28749476; 27668283; 27524508
Added Tag
Sarah Leigh (Genomics England Curator)Tag Q2_21_rating tag was added to gene: CTSF.
Entity classified by Genomics England curator
Sarah Leigh (Genomics England Curator)Gene: ctsf has been classified as Amber List (Moderate Evidence).
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for gene: CTSF were changed from Ceroid lipofuscinosis, neuronal, 13, Kufs type, MIM# 615362 to Ceroid lipofuscinosis, neuronal, 13, Kufs type OMIM:615362; neuronal ceroid lipofuscinosis 13 MONDO:0014147
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Australian Genomics)gene: CTSF was added gene: CTSF was added to Lysosomal storage disorder. Sources: Expert list Mode of inheritance for gene: CTSF was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CTSF were set to 28749476; 27668283; 27524508 Phenotypes for gene: CTSF were set to Ceroid lipofuscinosis, neuronal, 13, Kufs type, MIM# 615362 Review for gene: CTSF was set to GREEN