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Early-onset Parkinson disease

Gene: FUS

Red List (low evidence)
FUS (FUS RNA binding protein)
EnsemblGeneIds (GRCh38): ENSG00000089280
EnsemblGeneIds (GRCh37): ENSG00000089280
OMIM: 137070, Gene2Phenotype
FUS is in 7 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

Red List (low evidence)

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: Literature
Created: 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

Created: 20 Apr 2024, 5:54 a.m.
Last Modified: 20 Apr 2024, 6:09 a.m.
Panel version: 0.313

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • tremor, hereditary essential, 4 MONDO:0013888
OMIM
137070
Clinvar variants
Variants in FUS
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 Apr 2024, Gel status: 1

Set publications

Bryony Thompson (Royal Melbourne Hospital)

Publications for gene: FUS were set to 22863194

20 Apr 2024, Gel status: 1

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: fus has been classified as Red List (Low Evidence).

20 Apr 2024, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

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