Retinal disorders
Gene: CTSFComment 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
Retinal degeneration is a feature.
Sources: Expert listCreated: 10 Oct 2020, 7:11 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Ceroid lipofuscinosis, neuronal, 13, Kufs type OMIM #615362
Gene: ctsf has been classified as Red List (Low Evidence).
Phenotypes for gene: CTSF were changed from Ceroid lipofuscinosis, neuronal, 13, Kufs type OMIM #615362 to Ceroid lipofuscinosis, neuronal, 13, Kufs type, OMIM:615362
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