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DDG2P

Gene: SPAST

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

1 review

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

The DDG2P confidence category, allelic requirement and molecular mechanism for SPAST-related developmental disorder are strong, monoallelic_autosomal and undetermined. More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02859. The DDG2P confidence category, allelic requirement and molecular mechanism for SPAST-related spastic paraplegia are definitive, monoallelic_autosomal and loss of function (PMIDs: 10610178, 10699187, 11309678, 11843700, 16055926, 18701882, 36452170, 37251230, 37473796, 38145127, 40019011). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03840.
Created: 13 Feb 2026, 9:26 p.m. | Last Modified: 13 Feb 2026, 9:26 p.m.
Panel Version: 6.17
The DDG2P confidence category for the disease SPAST-related developmental disorder (monoallelic) is strong. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure.
Created: 4 Oct 2023, 5:08 p.m. | Last Modified: 4 Oct 2023, 5:08 p.m.
Panel Version: 3.12

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

Phenotypes
OMIM:182601.0; SPAST-related developmental disorder; MONDO:0700092; SPAST-related developmental disorder (monoallelic); SPAST-related spastic paraplegia; MONDO:0008438

Publications

Mode of pathogenicity
Other

Created: 4 Oct 2023, 5:08 p.m.
Last Modified: 4 Oct 2023, 5:08 p.m.
Panel version: 6.17

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • SPAST-related developmental disorder (monoallelic)
OMIM
604277
Clinvar variants
Variants in SPAST
Penetrance
None
Panels with this gene

History Filter Activity

20 Feb 2026, Gel status: 3

Set mode of pathogenicity

Achchuthan Shanmugasundram (Genomics England Curator)

Mode of pathogenicity for gene: SPAST was changed from Other to None

4 Oct 2023, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes, Set mode of pathogenicity

Achchuthan Shanmugasundram (Genomics England Curator)

gene: SPAST was added gene: SPAST was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SPAST was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: SPAST were set to SPAST-related developmental disorder (monoallelic) Mode of pathogenicity for gene: SPAST was set to Other