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Genetic epilepsy syndromes

Gene: CTSF

Amber List (moderate evidence)

CTSF (cathepsin F)
EnsemblGeneIds (GRCh38): ENSG00000174080
EnsemblGeneIds (GRCh37): ENSG00000174080
OMIM: 603539, Gene2Phenotype
CTSF is in 4 panels

2 reviews

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

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

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
  • Wessex and West Midlands GLH
Phenotypes
  • Ceroid lipofuscinosis, neuronal, 13, Kufs type, 615362
OMIM
603539
Clinvar variants
Variants in CTSF
Penetrance
None
Publications
Panels with this gene

History Filter Activity

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