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  3. CTSF
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Adult onset neurodegenerative disorder

Gene: CTSF

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

2 reviews

Louise Daugherty (Genomics England Curator)

Green List (high evidence)

As discussed with the GMS Neurology Specialist Test Group webex call11th September 2019 : The Specialist Test Group all agreed that there is enough evidence to rate this gene Green
Created: 20 Sep 2019, 4:19 p.m. | Last Modified: 20 Sep 2019, 4:19 p.m.
Panel Version: 1.106
Comment on list classification: New gene added from curation of Undiagnosed metabolic disorders panel and recommended by Genomics England clinical team to add to the Neurodegenerative disorders - adult onset panel. This is reported with onset in adulthood (youngest 20 yrs, oldest 35 yrs) with neurological features and cognitive decline.
Created: 9 Jul 2019, 1:25 p.m. | Last Modified: 9 Jul 2019, 1:25 p.m.
Panel Version: 1.62
Created: 9 Jul 2019, 1:25 p.m.
Last Modified: 9 Jul 2019, 1:25 p.m.
Panel version: 1.106

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

Associated with phenotype in OMIM but not in Gen2Phen. This gene was reported in the GMS Neuronal ceroid lipofuscinosis panel as a green gene. At least six variants have been reported in patients with neurological features and cognitive decline, together with supportive functional studies.
Sources: Literature
Created: 9 Jul 2019, 12:51 p.m. | Last Modified: 9 Jul 2019, 1:12 p.m.
Panel Version: 1.61

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Type B Kufs disease

Publications

Created: 9 Jul 2019, 12:51 p.m.
Last Modified: 9 Jul 2019, 1:12 p.m.
Panel version: 1.60

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Ceroid lipofuscinosis, neuronal, 13, Kufs type, OMIM:615362
OMIM
603539
Clinvar variants
Variants in CTSF
Penetrance
None
Publications
Panels with this gene

History Filter Activity

29 Mar 2021, Gel status: 3

Set Phenotypes

Ivone Leong (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

9 Jul 2019, Gel status: 3

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene: CTSF were set to 23297359: 25274848

9 Jul 2019, Gel status: 3

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: ctsf has been classified as Green List (High Evidence).

9 Jul 2019, Gel status: 1

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: CTSF were changed from Type B Kufs disease to Ceroid lipofuscinosis, neuronal, 13, Kufs type 615362

9 Jul 2019, Gel status: 1

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

Sarah Leigh (Genomics England Curator)

gene: CTSF was added gene: CTSF was added to Neurodegenerative disorders - adult onset. Sources: Literature Mode of inheritance for gene: CTSF was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CTSF were set to 23297359: 25274848 Phenotypes for gene: CTSF were set to Type B Kufs disease Review for gene: CTSF was set to GREEN