| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Early-onset Dementia v0.53 | CTSF | Zornitza Stark Classified gene: CTSF as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early-onset Dementia v0.53 | CTSF | Zornitza Stark Gene: ctsf has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early-onset Dementia v0.53 | CTSF | Zornitza Stark Marked gene: CTSF as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early-onset Dementia v0.53 | CTSF | Zornitza Stark Gene: ctsf has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early-onset Dementia v0.53 | CTSF | Zornitza Stark Classified gene: CTSF as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early-onset Dementia v0.53 | CTSF | Zornitza Stark Gene: ctsf has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early-onset Dementia v0.52 | CTSF |
Elena Savva gene: CTSF was added gene: CTSF was added to Early-onset Dementia. Sources: Expert list Mode of inheritance for gene: CTSF was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CTSF were set to PMID: 28749476; 27668283; 27524508 Phenotypes for gene: CTSF were set to Ceroid lipofuscinosis, neuronal, 13, Kufs type 615362 Review for gene: CTSF was set to GREEN Added comment: OMIM: Cathepsin is a member of the papain family of cysteine proteases. These enzymes represent a major component of the lysosomal proteolytic system. PMID: 28749476 - 1 chet patient (missense, CNV) with FTD, onset at 37 years old. PMID: 27668283 - 2 families with adult-onset neuronal ceroid lipofuscinosis and FTD. Onset in 20s-30s. Light and electron microscopy shows swollen neuronal perikarya and intraneuronal storage of polymorphic lipofuscin-like inclusions PMID: 27524508 - 1 hom family (PTC) with early-onset Alzheimer disease Sources: Expert list |
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