Motor Neurone Disease
Gene: FUS
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 ALSCreated: 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
Gene: fus has been classified as Green List (High Evidence).
Phenotypes for gene: FUS were changed from to Amyotrophic lateral sclerosis 6, with or without frontotemporal dementia (MIM#608030)
Publications for gene: FUS were set to
Mode of inheritance for gene: FUS was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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