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Retinal disorders

Gene: CTSF

Red List (low evidence)

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

2 reviews

Ivone Leong (Genomics England Curator)

Comment on list classification: This gene is associated with Ceroid lipofuscinosis, neuronal, 13, Kufs type (also known as Kufs disease or Adult neuronal ceroid lipofuscinosis) in OMIM but not in Gene2Phenotype.

While neuronal ceroid lipofuscinosis are characterized by lysosomal lipopigment storage in neurons, and usually the eye, and cause progressive neurological impairment, motor and intellectual deterioration, seizures, visual failure, and early death, Kufs disease is different. For Kufs disease the retina is not involvolved and the onset is in adulthood (PMID: 21549341). Based on the phenotype, this gene has been given a Red rating as the phenotype does not fit this panel.
Created: 8 Jan 2021, 2:23 p.m. | Last Modified: 8 Jan 2021, 2:24 p.m.
Panel Version: 2.116

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Retinal degeneration is a feature.
Sources: Expert list
Created: 10 Oct 2020, 7:11 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Details

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

History Filter Activity

8 Jan 2021, Gel status: 1

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: ctsf has been classified as Red List (Low Evidence).

6 Jan 2021, Gel status: 0

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: CTSF were changed from Ceroid lipofuscinosis, neuronal, 13, Kufs type OMIM #615362 to Ceroid lipofuscinosis, neuronal, 13, Kufs type, OMIM:615362

10 Oct 2020, Gel status: 0

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

Zornitza Stark (Australian Genomics)

gene: CTSF was added gene: CTSF was added to Retinal disorders. Sources: Expert list Mode of inheritance for gene: CTSF was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CTSF were set to Ceroid lipofuscinosis, neuronal, 13, Kufs type OMIM #615362 Review for gene: CTSF was set to GREEN