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  3. SPTSSA
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DDG2P

Gene: SPTSSA

Green List (high evidence)
SPTSSA (serine palmitoyltransferase small subunit A)
EnsemblGeneIds (GRCh38): ENSG00000165389
EnsemblGeneIds (GRCh37): ENSG00000165389
OMIM: 613540, Gene2Phenotype
SPTSSA is in 2 panels

1 review

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

The DDG2P confidence category, allelic requirement and molecular mechanism for SPTSSA-related complex hereditary spastic paraplegia are moderate, monoallelic_autosomal and gain of function (PMID:36718090). The cross-cutting modifier is restricted mutation set. More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03752. The DDG2P confidence category, allelic requirement and molecular mechanism for SPTSSA-related complex hereditary spastic paraplegia are limited, biallelic_autosomal and loss of function (PMID:36718090). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03759.
Created: 13 Feb 2026, 9:26 p.m. | Last Modified: 13 Feb 2026, 9:26 p.m.
Panel Version: 6.17

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

Phenotypes
MONDO:0957308; OMIM:620416.0; SPTSSA-related complex hereditary spastic paraplegia

Publications

Created: 13 Feb 2026, 9:26 p.m.
Last Modified: 13 Feb 2026, 9:26 p.m.
Panel version: 6.17

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • OMIM:620416.0
  • MONDO:0957308
  • SPTSSA-related complex hereditary spastic paraplegia
OMIM
613540
Clinvar variants
Variants in SPTSSA
Penetrance
None
Publications
Panels with this gene

History Filter Activity

13 Feb 2026, Gel status: 3

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

Achchuthan Shanmugasundram (Genomics England Curator)

gene: SPTSSA was added gene: SPTSSA was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SPTSSA was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SPTSSA were set to 36718090 Phenotypes for gene: SPTSSA were set to OMIM:620416.0; MONDO:0957308; SPTSSA-related complex hereditary spastic paraplegia