Adult onset neurodegenerative disorder
Gene: CTSF
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 GreenCreated: 20 Sep 2019, 4:19 p.m. | Last Modified: 20 Sep 2019, 4:19 p.m.
Panel Version: 1.106
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.Created: 9 Jul 2019, 1:25 p.m. | Last Modified: 9 Jul 2019, 1:25 p.m.
Panel Version: 1.62
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: LiteratureCreated: 9 Jul 2019, 12:51 p.m. | Last Modified: 9 Jul 2019, 1:12 p.m.
Panel Version: 1.61
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Type B Kufs disease
Publications
Phenotypes for gene: CTSF were changed from Ceroid lipofuscinosis, neuronal, 13, Kufs type 615362 to Ceroid lipofuscinosis, neuronal, 13, Kufs type, OMIM:615362
Publications for gene: CTSF were set to 23297359: 25274848
Gene: ctsf has been classified as Green List (High Evidence).
Phenotypes for gene: CTSF were changed from Type B Kufs disease to Ceroid lipofuscinosis, neuronal, 13, Kufs type 615362
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