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| Lysosomal storage disorder v2.3 | CTSF | Achchuthan Shanmugasundram Tag Q2_21_rating was removed from gene: CTSF. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Lysosomal storage disorder v2.3 | CTSF | Achchuthan Shanmugasundram reviewed gene: CTSF: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Lysosomal storage disorder v2.2 | CTSF |
Achchuthan Shanmugasundram 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) |
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| Lysosomal storage disorder v1.64 | CTSF | Sarah Leigh Publications for gene: CTSF were set to 28749476; 27668283; 27524508 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Lysosomal storage disorder v1.63 | CTSF | Sarah Leigh edited their review of gene: CTSF: Added comment: Associated with relevant phenotype in OMIM, but not associated with phenotype in Gen2Phen. At least nine variants reported in at least seven unrelated cases.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Lysosomal storage disorder v1.63 | CTSF | Sarah Leigh Tag Q2_21_rating tag was added to gene: CTSF. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Lysosomal storage disorder v1.63 | CTSF | Sarah Leigh Classified gene: CTSF as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Lysosomal storage disorder v1.63 | CTSF | Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Lysosomal storage disorder v1.63 | CTSF | Sarah Leigh Gene: ctsf has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Lysosomal storage disorder v1.62 | CTSF | Sarah Leigh Phenotypes for gene: CTSF were changed from Ceroid lipofuscinosis, neuronal, 13, Kufs type, MIM# 615362 to Ceroid lipofuscinosis, neuronal, 13, Kufs type OMIM:615362; neuronal ceroid lipofuscinosis 13 MONDO:0014147 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Lysosomal storage disorder v1.3 | CTSF |
Zornitza Stark gene: CTSF was added gene: CTSF was added to Lysosomal storage disorder. Sources: Expert list Mode of inheritance for gene: CTSF was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CTSF were set to 28749476; 27668283; 27524508 Phenotypes for gene: CTSF were set to Ceroid lipofuscinosis, neuronal, 13, Kufs type, MIM# 615362 Review for gene: CTSF was set to GREEN Added comment: Cathepsin is a member of the papain family of cysteine proteases, 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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