| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Motor Neurone Disease v1.10 | CYLD | Zornitza Stark Marked gene: CYLD as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Motor Neurone Disease v1.10 | CYLD | Zornitza Stark Gene: cyld has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Motor Neurone Disease v1.10 | CYLD | Zornitza Stark Marked gene: CYLD as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Motor Neurone Disease v1.10 | CYLD | Zornitza Stark Gene: cyld has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Motor Neurone Disease v1.8 | CYLD | Sangavi Sivagnanasundram reviewed gene: CYLD: Rating: RED; Mode of pathogenicity: None; Publications: https://search.clinicalgenome.org/CCID:004615; Phenotypes: frontotemporal dementia and/or amyotrophic lateral sclerosis 8 (MONDO:0030872); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Motor Neurone Disease v0.120 | CYLD | Bryony Thompson Classified gene: CYLD as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Motor Neurone Disease v0.120 | CYLD | Bryony Thompson Gene: cyld has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Motor Neurone Disease v0.119 | CYLD |
Bryony Thompson gene: CYLD was added gene: CYLD was added to Motor Neurone Disease. Sources: Literature Mode of inheritance for gene: CYLD was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CYLD were set to 32666117; 32666099; 32185393 Phenotypes for gene: CYLD were set to Frontotemporal dementia and/or amytrophic lateral sclerosis 8, MIM# 619132 Mode of pathogenicity for gene: CYLD was set to Other Review for gene: CYLD was set to AMBER Added comment: Original study (PMID: 32185393) identified a gain of function missense segregating 7 FTD cases (1 also with ALS) and 1 ALS case in an Australian family, that has a previously identified linkage peak in this region. Extensive genomic studies were conducted to exclude structural variation and repeats as causes. Supporting immunohistochemical evidence in brain tissue and extensive in vitro assays on the missense variant (M719V), showing a different mechanism of disease to loss of function that is associated with cutaneous phenotypes. Also, demonstrated a significant enrichment of rare missense variants in the deubiquitinase domain of CYLD (amino acids 593–948) in an FTD cohort, but not an ALS cohort. A subsequent Portuguese FTD study has identified two missense VUS in 2 FTD cases. Segregation studies or functional studies were not conducted (PMID: 32666117). Sources: Literature |
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