1. Panels
  2. Amyotrophic lateral sclerosis/motor neuron disease
  3. SPAST
Regions in panel
Prev Next

Amyotrophic lateral sclerosis/motor neuron disease

Gene: SPAST

Green List (high evidence)
SPAST (spastin)
EnsemblGeneIds (GRCh38): ENSG00000021574
EnsemblGeneIds (GRCh37): ENSG00000021574
OMIM: 604277, Gene2Phenotype
SPAST is in 9 panels

2 reviews

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

Associated with relevant phenotype in OMIM and as strong Gen2Phen gene. Numerous SPAST variants have been reported, with amyotrophy reported in at least three cases (PMID: 16240363;18401025; 33589474).
Created: 14 Mar 2023, 3:07 p.m. | Last Modified: 14 Mar 2023, 3:07 p.m.
Panel Version: 1.66

Publications

Created: 14 Mar 2023, 3:07 p.m.
Last Modified: 14 Mar 2023, 3:07 p.m.
Panel version: 1.66

Andrey Gagunashvili (UCL Great Ormond Street Institute of Child Health)

I don't know

Shall be added to "Amyotrophic lateral sclerosis/motor neuron disease" gene panel due to the phenotypic overlap of ALS/MND and spastic paraplegia.

This gene is included in Sheffield's group ALS/MND gene panel (Sheffield Institute for Translational Neuroscience, The University of Sheffield).
Sources: Literature, Research
Created: 2 Mar 2023, 2:01 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Spastic paraplegia 4, autosomal dominant

Publications

Created: 2 Mar 2023, 2:01 p.m.

Panel version: 1.62

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Phenotypes
  • Spastic paraplegia 4, autosomal dominant, OMIM:182601
  • hereditary spastic paraplegia 4, MONDO:0008438
OMIM
604277
Clinvar variants
Variants in SPAST
Penetrance
unknown
Publications
Panels with this gene

History Filter Activity

14 Mar 2023, Gel status: 3

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: SPAST were set to 16832076; 18401025; 33589474

14 Mar 2023, Gel status: 3

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

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

14 Mar 2023, Gel status: 0

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: SPAST were changed from Spastic paraplegia 4, autosomal dominant to Spastic paraplegia 4, autosomal dominant, OMIM:182601; hereditary spastic paraplegia 4, MONDO:0008438

2 Mar 2023, Gel status: 0

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

Andrey Gagunashvili (UCL Great Ormond Street Institute of Child Health)

gene: SPAST was added gene: SPAST was added to Amyotrophic lateral sclerosis/motor neuron disease. Sources: Literature,Research Mode of inheritance for gene: SPAST was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SPAST were set to 16832076; 18401025; 33589474 Phenotypes for gene: SPAST were set to Spastic paraplegia 4, autosomal dominant Penetrance for gene: SPAST were set to unknown Review for gene: SPAST was set to AMBER