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  3. CTSF
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Likely inborn error of metabolism

Gene: CTSF

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

1 review

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Created: 4 May 2024, 3:17 p.m. | Last Modified: 4 May 2024, 3:17 p.m.
Panel Version: 5.3
Emma Ashton (Great Ormond Street Hospital) ([email protected]) Variants in this GENE are reported as part of current diagnostic practice.
Created: 8 Jan 2024, 3:02 p.m. | Last Modified: 8 Jan 2024, 3:02 p.m.
Panel Version: 4.110
Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.
Created: 8 Jan 2024, 3 p.m. | Last Modified: 8 Jan 2024, 3 p.m.
Panel Version: 4.110

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Variants in this GENE are reported as part of current diagnostic practice

Created: 8 Jan 2024, 3 p.m.
Last Modified: 8 Jan 2024, 3 p.m.
Panel version: 5.3

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • Expert list
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

4 May 2024, Gel status: 3

Removed Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag Q4_23_promote_green was removed from gene: CTSF.

4 May 2024, Gel status: 3

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)

8 Jan 2024, Gel status: 2

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: ctsf has been classified as Amber List (Moderate Evidence).

8 Jan 2024, Gel status: 1

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

Sarah Leigh (Genomics England Curator)

gene: CTSF was added gene: CTSF was added to Likely inborn error of metabolism - targeted testing not possible. Sources: Expert list Q4_23_promote_green tags were added to gene: CTSF. 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 Ceroid lipofuscinosis, neuronal, 13, Kufs type OMIM:615362; neuronal ceroid lipofuscinosis 13 MONDO:0014147