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  2. Motor Neurone Disease
  3. SPART
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Motor Neurone Disease

Gene: SPART

Green List (high evidence)
SPART (spartin)
EnsemblGeneIds (GRCh38): ENSG00000133104
EnsemblGeneIds (GRCh37): ENSG00000133104
OMIM: 607111, Gene2Phenotype
SPART is in 8 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

Condition is a complicated hereditary spastic paraplegia with features of motor neuron disease
Sources: Expert list
Created: 16 Jan 2020, 3:27 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Troyer syndrome, 275900

Publications

Created: 16 Jan 2020, 3:27 a.m.

Panel version: Imported from Amyotrophic Lateral Sclerosis and Motor Neuron Disease panel version 0.54

Details

Mode of Inheritance
Unknown
Sources
  • Expert Review Green
  • Expert list
  • Melbourne Genomics Health Alliance Complex Neurology Flagship
  • Victorian Clinical Genetics Services
  • Expert Review Green
OMIM
607111
Clinvar variants
Variants in SPART
Penetrance
None
Panels with this gene

History Filter Activity

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: SPART was added gene: SPART 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: SPART was set to Unknown