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  3. SPAST
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Cerebral Palsy

Gene: SPAST

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

3 reviews

Clare van Eyk (University of Adelaide)

Green List (high evidence)

4 additional individuals with mono-allelic P/LP variants reported in large-scale exome sequencing study (PMID: 38693247).
Created: 27 May 2024, 2:21 p.m. | Last Modified: 27 May 2024, 2:21 p.m.
Panel Version: 1.194

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Publications

Created: 27 May 2024, 2:21 p.m.
Last Modified: 27 May 2024, 2:21 p.m.
Panel version: 1.194

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Comment when marking as ready: Gene-disease association with spasticity is well established, individuals identified in a CP cohort.
Created: 2 Nov 2020, 5:10 a.m. | Last Modified: 2 Nov 2020, 5:10 a.m.
Panel Version: 0.53
Created: 2 Nov 2020, 5:10 a.m.
Last Modified: 2 Nov 2020, 5:10 a.m.
Panel version: 0.53

Crystle Lee (Victorian Clinical Genetics Services)

I don't know

2 different de novo missense variants reported in CP cohort. Both patients presented with spasticity.
Sources: Expert list
Created: 2 Nov 2020, 5:04 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Cerebral Palsy (PMID:32989326)

Publications

Created: 2 Nov 2020, 5:04 a.m.

Panel version: 0.51

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Phenotypes
  • Cerebral Palsy (PMID:32989326)
OMIM
604277
Clinvar variants
Variants in SPAST
Penetrance
None
Publications
Panels with this gene

History Filter Activity

2 Nov 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).

2 Nov 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).

2 Nov 2020, Gel status: 0

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

Crystle Lee (Victorian Clinical Genetics Services)

gene: SPAST was added gene: SPAST was added to Cerebral Palsy. Sources: Expert list Mode of inheritance for gene: SPAST was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SPAST were set to 32989326 Phenotypes for gene: SPAST were set to Cerebral Palsy (PMID:32989326) Review for gene: SPAST was set to AMBER