Motor Neurone Disease

Gene: SPAST

Green List (high evidence)

SPAST (spastin)
EnsemblGeneIds (GRCh38): ENSG00000021574
EnsemblGeneIds (GRCh37): ENSG00000021574
OMIM: 604277, Gene2Phenotype
SPAST is in 10 panels

2 reviews

Chern Lim (Victorian Clinical Genetics Services)

Green List (high evidence)

- Disease penetrance is age dependent and mostly complete, an estimated 6% of individuals remain asymptomatic throughout life, and is reported to be lower in females (PMID:30476002).

- Age at onset of symptoms ranges from infancy to the eighth decade. Age of onset and disease severity are variable even among family members with the same pathogenic variant. (PMID:30476002)

- Multiple loss of function variants have been reported, while a dominant negative mechanism has been stipulated for a small number of missense variants (PMID:30006150).
Created: 24 Sep 2020, 5:37 a.m. | Last Modified: 24 Sep 2020, 5:37 a.m.
Panel Version: 0.4560

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Spastic paraplegia 4, autosomal dominant (MIM#182601), AD

Publications

Variants in this GENE are reported as part of current diagnostic practice

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

The HSP caused by this gene can be classified as a non-ALS MND, affecting the upper motor neurons. There are multiple reports of the condition mimicking MND.
Sources: Expert list
Created: 19 Jun 2020, 5:56 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Publications

History Filter Activity

19 Jun 2020, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

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

19 Jun 2020, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

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

19 Jun 2020, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

gene: SPAST was added gene: SPAST was added to Motor Neuron Disease. Sources: Expert list Mode of inheritance for gene: SPAST was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SPAST were set to 16765570; 19364936 Review for gene: SPAST was set to GREEN