Hereditary Spastic Paraplegia - paediatric

Gene: SPAST

Green List (high evidence)

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)

Wide variation in age of onset, but onset as early as infancy reported.
Sources: Expert list
Created: 18 Apr 2020, 8:25 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Spastic paraplegia 4, autosomal dominant, MIM# 182601

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Spastic paraplegia 4, autosomal dominant, MIM# 182601
OMIM
604277
Clinvar variants
Variants in SPAST
Penetrance
None
Panels with this gene

History Filter Activity

18 Apr 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).

18 Apr 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).

18 Apr 2020, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: SPAST was added gene: SPAST was added to Hereditary Spastic Paraplegia - paediatric. Sources: Expert list Mode of inheritance for gene: SPAST was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: SPAST were set to Spastic paraplegia 4, autosomal dominant, MIM# 182601 Review for gene: SPAST was set to GREEN