Hereditary Spastic Paraplegia - paediatric
Gene: SPAST
SPAST (spastin)
EnsemblGeneIds (GRCh38): ENSG00000021574
EnsemblGeneIds (GRCh37): ENSG00000021574
OMIM: 604277, Gene2Phenotype
SPAST is in 10 panels
EnsemblGeneIds (GRCh38): ENSG00000021574
EnsemblGeneIds (GRCh37): ENSG00000021574
OMIM: 604277, Gene2Phenotype
SPAST is in 10 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Wide variation in age of onset, but onset as early as infancy reported.
Sources: Expert listCreated: 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