Hereditary Spastic Paraplegia - adult onset
Gene: SPAST

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

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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, 8:15 a.m. | Last Modified: 24 Sep 2020, 8:15 a.m.

Panel Version: 0.40

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

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

Publications

Created: 24 Sep 2020, 8:15 a.m.
Last Modified: 24 Sep 2020, 8:15 a.m.
Panel version: 0.40

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Sources

Expert Review Green
Royal Melbourne Hospital

Phenotypes

Spastic paraplegia 4, autosomal dominant, 182601

OMIM

604277

Clinvar variants

Variants in SPAST

Penetrance

None

Publications

Panels with this gene

History Filter Activity

24 Sep 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

24 Sep 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: SPAST were set to

31 Dec 2019, Gel status: 3

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

Bryony Thompson (Royal Melbourne Hospital)

gene: SPAST was added gene: SPAST was added to Hereditary Spastic Paraplegia - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: SPAST was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: SPAST were set to Spastic paraplegia 4, autosomal dominant, 182601

Hereditary Spastic Paraplegia - adult onset Gene: SPAST