Hereditary Neuropathy - complex
Gene: SPAST

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

1 review

Sangavi Sivagnanasundram (Melbourne Health)

Green List (high evidence)

Neuropathy is a feature in complex HSP which is caused by autosomal dominant mutations in SPAST or KIF5A.

PMID: 32242913; 22192498
3 unrelated individuals with HSP and polyneuropathy as a clinical feature however their WES remains undiagnosed.
Created: 14 Aug 2023, 10:37 p.m. | Last Modified: 15 Aug 2023, 1:14 a.m.

Panel Version: 0.275

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Spastic paraplegia 4, autosomal dominant 182601

Publications

Created: 11 Aug 2023, 5:12 a.m.
Last Modified: 15 Aug 2023, 1:14 a.m.
Panel version: 0.275

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Sources

Expert Review Green
Royal Melbourne Hospital

Phenotypes

Spastic paraplegia 4, autosomal dominant
Spasticity
Hereditary Neuropathies

OMIM

604277

Clinvar variants

Variants in SPAST

Penetrance

None

Panels with this gene

History Filter Activity

15 Aug 2023, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

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

13 Jan 2020, 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 Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green 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; Spasticity; Hereditary Neuropathies

Hereditary Neuropathy - complex Gene: SPAST