Lysosomal storage disorder
Gene: CTSF
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
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
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
Tag Q2_21_rating was removed from gene: CTSF.
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)
Publications for gene: CTSF were set to 28749476; 27668283; 27524508
Tag Q2_21_rating tag was added to gene: CTSF.
Gene: ctsf has been classified as Amber List (Moderate Evidence).
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
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