Speech apraxia
Gene: SPASTEnsemblGeneIds (GRCh38): ENSG00000021574
EnsemblGeneIds (GRCh37): ENSG00000021574
OMIM: 604277, Gene2Phenotype
SPAST is in 10 panels
1 review
Thomas Scerri (Murdoch Children's Research Institute)
First reported CAS case with an de novo SPAST missense variant (Kaspi et al., 2022; PMID: 36117209).
Sources: Expert list, Expert ReviewCreated: 28 Jun 2024, 5:58 a.m. | Last Modified: 1 Jul 2024, 11:14 a.m.
Panel Version: 0.38
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Spastic paraplegia 4, autosomal dominant, MIM# 182601
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Red
- Phenotypes
-
- Spastic paraplegia 4, autosomal dominant, MIM# 182601
- OMIM
- 604277
- Clinvar variants
- Variants in SPAST
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: spast has been classified as Red List (Low Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: spast has been classified as Red List (Low Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Thomas Scerri (Murdoch Children's Research Institute)gene: SPAST was added gene: SPAST was added to Speech apraxia. Sources: Expert list,Expert Review Mode of inheritance for gene: SPAST was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SPAST were set to 36117209 Phenotypes for gene: SPAST were set to Spastic paraplegia 4, autosomal dominant, MIM# 182601 Review for gene: SPAST was set to RED