Early-onset Parkinson disease
Gene: FUS
A single family reported p.Gln290* segregating (incomplete penetrance) with essential tremor, also two missense variants reported in 2 probands which are too common in gnomAD and have been classified as LB in ClinVar. One of these (Pro431Leu) was also reported in an Italian family. A reported ET risk variant Met392Ile in a Chinese population - set 1 odds ratio = 4.72 [95% confidence interval = 1.90-11.71], p = 0.0037). Validation set 2 (joint analysis odds ratio = 3.92 [95% confidence interval = 1.57-9.82], p = 8.6 × 10(-4). This variant has been classified as LB in ClinVar.
Sources: LiteratureCreated: 20 Apr 2024, 5:54 a.m. | Last Modified: 20 Apr 2024, 6:09 a.m.
Panel Version: 0.313
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
tremor, hereditary essential, 4 MONDO:0013888
Publications
Publications for gene: FUS were set to 22863194
Gene: fus has been classified as Red List (Low Evidence).
gene: FUS was added gene: FUS was added to Early-onset Parkinson disease. Sources: Literature Mode of inheritance for gene: FUS was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: FUS were set to 22863194 Phenotypes for gene: FUS were set to tremor, hereditary essential, 4 MONDO:0013888 Review for gene: FUS was set to RED