Amyotrophic lateral sclerosis/motor neuron disease
Gene: SPAST
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
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, ResearchCreated: 2 Mar 2023, 2:01 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Spastic paraplegia 4, autosomal dominant
Publications
Publications for gene: SPAST were set to 16832076; 18401025; 33589474
Gene: spast has been classified as Green List (High Evidence).
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
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