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Motor Neurone Disease

Gene: FUS

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

1 review

Sangavi Sivagnanasundram (Melbourne Health)

Green List (high evidence)

PMID: 19251628
In vitro functional assay was conducted that showed an increase in cytoplasmic localisation of the mutant proteins.
> 20 individuals with ALS clinical phenotypes and FUS mutations with multiple cases showing lower motor neuron loss in the spinal cord and in brain stem to a lesser degree.

PMID: 19251627
3 unrelated families with FUS mutations and a diagnosis of ALS
Created: 18 May 2023, 2:43 a.m. | Last Modified: 18 May 2023, 2:43 a.m.
Panel Version: 0.138

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Amyotrophic lateral sclerosis 6, with or without frontotemporal dementia (MIM#608030)

Publications

Created: 18 May 2023, 2:43 a.m.
Last Modified: 18 May 2023, 2:43 a.m.
Panel version: 0.138

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Complex Neurology Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Amyotrophic lateral sclerosis 6, with or without frontotemporal dementia (MIM#608030)
OMIM
137070
Clinvar variants
Variants in FUS
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 Apr 2024, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: fus has been classified as Green List (High Evidence).

20 Apr 2024, Gel status: 3

Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

Phenotypes for gene: FUS were changed from to Amyotrophic lateral sclerosis 6, with or without frontotemporal dementia (MIM#608030)

20 Apr 2024, Gel status: 3

Set publications

Bryony Thompson (Royal Melbourne Hospital)

Publications for gene: FUS were set to

20 Apr 2024, Gel status: 3

Set mode of inheritance

Bryony Thompson (Royal Melbourne Hospital)

Mode of inheritance for gene: FUS was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: FUS was added gene: FUS was added to Motor neuron disease MND_MelbourneGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Complex Neurology Flagship Mode of inheritance for gene: FUS was set to Unknown