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  3. CTSF
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Early onset or syndromic epilepsy

Gene: CTSF

Green List (high evidence)
CTSF (cathepsin F)
EnsemblGeneIds (GRCh38): ENSG00000174080
EnsemblGeneIds (GRCh37): ENSG00000174080
OMIM: 603539, Gene2Phenotype
CTSF is in 8 panels

4 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.
Created: 11 Mar 2026, 3:39 p.m. | Last Modified: 11 Mar 2026, 3:39 p.m.
Panel Version: 8.134
Created: 11 Mar 2026, 3:39 p.m.
Last Modified: 11 Mar 2026, 3:39 p.m.
Panel version: 8.134

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

Comment on publications: PMID: 39720560 was identified by the Genomics England Applied Machine Learning (ML) team in a Biocuration-ML project for identifying new gene-disease associations using Natural Language Processing (NLP) and Generative AI techniques.
Created: 11 Mar 2025, 6:15 p.m. | Last Modified: 11 Mar 2025, 6:15 p.m.
Panel Version: 7.52
PMID: 39720560 reports a case of Ceroid lipofuscinosis, neuronal, 13, Kufs type (OMIM:615362) in a 54-year-old woman who was homozygous for a CTSF variant (c.993_1004delinsTGCCTACT, p.K331Nfs*14). The authors presented a clinical, pathologic and genetic review of 11 unrelated cases of OMIM:615362 (representing 20 individuals). There were 15 biallelic CTSF variants in this review and seizures were reported in six of these unrelated cases, including the patient already mentioned here.
Created: 11 Mar 2025, 6:13 p.m. | Last Modified: 11 Mar 2025, 6:13 p.m.
Panel Version: 7.51

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

Created: 11 Mar 2025, 6:13 p.m.
Last Modified: 11 Mar 2025, 6:13 p.m.
Panel version: 7.51

Rebecca Foulger (Genomics England curator)

I don't know

This gene was part of an initial gene list collated by Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust, 2019_02_06) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group, for Clinical Indication R59 'Early onset or syndromic epilepsy'. Review contributors: John Taylor and Helen Lord. Suggested gene rating: Amber.
Created: 6 Aug 2019, 8:38 p.m. | Last Modified: 6 Aug 2019, 8:38 p.m.
Panel Version: 1.189
Created: 6 Aug 2019, 8:38 p.m.
Last Modified: 6 Aug 2019, 8:38 p.m.
Panel version: 1.189

Tracy Lester (Genetics laboratory, Oxford UK)

I don't know

Ceroid lipofuscinosis gene - if other's are to be included this should be to. AR Neuronal ceroid lipofuscinosis 13. OMIM lists that some patients develop seizures - not a major feature.
Created: 6 Aug 2019, 8:31 p.m. | Last Modified: 6 Aug 2019, 8:31 p.m.
Panel Version: 1.188

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

Created: 6 Aug 2019, 8:31 p.m.
Last Modified: 6 Aug 2019, 8:31 p.m.
Panel version: 1.188

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Wessex and West Midlands GLH
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

11 Mar 2026, Gel status: 3

Removed Tag

Arina Puzriakova (Genomics England Curator)

Tag Q1_25_ promote_green was removed from gene: CTSF.

11 Mar 2026, Gel status: 3

Added New Source, Status Update

Arina Puzriakova (Genomics England Curator)

Source Expert Review Green was added to CTSF. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

11 Mar 2025, Gel status: 2

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: CTSF were set to 16508006; 39720560

11 Mar 2025, Gel status: 2

Added Tag

Sarah Leigh (Genomics England Curator)

Tag Q1_25_ promote_green tag was added to gene: CTSF.

11 Mar 2025, Gel status: 2

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: CTSF were set to 16508006

11 Mar 2025, Gel status: 2

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: CTSF were changed from Ceroid lipofuscinosis, neuronal, 13, Kufs type, 615362 to Ceroid lipofuscinosis, neuronal, 13, Kufs type, OMIM:615362; neuronal ceroid lipofuscinosis 13, MONDO:0014147

6 Aug 2019, Gel status: 2

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

Rebecca Foulger (Genomics England curator)

gene: CTSF was added gene: CTSF was added to Genetic epilepsy syndromes. Sources: Wessex and West Midlands GLH,NHS GMS,Expert Review Amber Mode of inheritance for gene: CTSF was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CTSF were set to 16508006 Phenotypes for gene: CTSF were set to Ceroid lipofuscinosis, neuronal, 13, Kufs type, 615362