Activity
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11 actions
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| Adult onset neurodegenerative disorder v2.65 | CTSF | Ivone Leong Phenotypes for gene: CTSF were changed from Ceroid lipofuscinosis, neuronal, 13, Kufs type 615362 to Ceroid lipofuscinosis, neuronal, 13, Kufs type, OMIM:615362 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset neurodegenerative disorder v1.106 | CTSF | Louise Daugherty edited their review of gene: CTSF: Added comment: As discussed with the GMS Neurology Specialist Test Group webex call11th September 2019 : The Specialist Test Group all agreed that there is enough evidence to rate this gene Green; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset neurodegenerative disorder v1.63 | CTSF | Louise Daugherty Publications for gene: CTSF were set to 23297359: 25274848 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset neurodegenerative disorder v1.62 | CTSF | Louise Daugherty Classified gene: CTSF as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset neurodegenerative disorder v1.62 | CTSF | Louise Daugherty Added comment: Comment on list classification: New gene added from curation of Undiagnosed metabolic disorders panel and recommended by Genomics England clinical team to add to the Neurodegenerative disorders - adult onset panel. This is reported with onset in adulthood (youngest 20 yrs, oldest 35 yrs) with neurological features and cognitive decline. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset neurodegenerative disorder v1.62 | CTSF | Louise Daugherty Gene: ctsf has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset neurodegenerative disorder v1.61 | CTSF |
Sarah Leigh changed review comment from: Associated with phenotype in OMIM (last updated 02/06/2015) or in Gen2Phen. This gene was reported in the GMS Neuronal ceroid lipofuscinosis panel as a green gene. At least six variants have been reported in patients with neurological features and cognitive decline, together with supportive functional studies. Sources: Literature; to: Associated with phenotype in OMIM but not in Gen2Phen. This gene was reported in the GMS Neuronal ceroid lipofuscinosis panel as a green gene. At least six variants have been reported in patients with neurological features and cognitive decline, together with supportive functional studies. Sources: Literature |
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| Adult onset neurodegenerative disorder v1.61 | CTSF | Sarah Leigh Phenotypes for gene: CTSF were changed from Type B Kufs disease to Ceroid lipofuscinosis, neuronal, 13, Kufs type 615362 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset neurodegenerative disorder v1.60 | CTSF |
Sarah Leigh changed review comment from: Not associated with phenotype in OMIM (last updated 02/06/2015) or in Gen2Phen. This gene was reported in the GMS Neuronal ceroid lipofuscinosis panel as a green gene. At least six variants have been reported in patients with neurological features and cognitive decline, together with supportive functional studies. Sources: Literature; to: Associated with phenotype in OMIM (last updated 02/06/2015) or in Gen2Phen. This gene was reported in the GMS Neuronal ceroid lipofuscinosis panel as a green gene. At least six variants have been reported in patients with neurological features and cognitive decline, together with supportive functional studies. Sources: Literature |
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| Adult onset neurodegenerative disorder v1.60 | CTSF |
Sarah Leigh changed review comment from: Not associated with phenotype in OMIM (last updated 02/06/2015) or in Gen2Phen. This gene was reported in the GMS Neuronal ceroid lipofuscinosis panel as a green gene. At least six variants have been reported in patients with neurological features and cognitive decline, toghether with supportive functional studies. Sources: Literature; to: Not associated with phenotype in OMIM (last updated 02/06/2015) or in Gen2Phen. This gene was reported in the GMS Neuronal ceroid lipofuscinosis panel as a green gene. At least six variants have been reported in patients with neurological features and cognitive decline, together with supportive functional studies. Sources: Literature |
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| Adult onset neurodegenerative disorder v1.60 | CTSF |
Sarah Leigh gene: CTSF was added gene: CTSF was added to Neurodegenerative disorders - adult onset. Sources: Literature 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 Type B Kufs disease Review for gene: CTSF was set to GREEN Added comment: Not associated with phenotype in OMIM (last updated 02/06/2015) or in Gen2Phen. This gene was reported in the GMS Neuronal ceroid lipofuscinosis panel as a green gene. At least six variants have been reported in patients with neurological features and cognitive decline, toghether with supportive functional studies. Sources: Literature |
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