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Genetic Epilepsy

Gene: STX1A

Green List (high evidence)

STX1A (syntaxin 1A)
EnsemblGeneIds (GRCh38): ENSG00000106089
EnsemblGeneIds (GRCh37): ENSG00000106089
OMIM: 186590, Gene2Phenotype
STX1A is in 4 panels

2 reviews

Belinda Chong (Victorian Clinical Genetics Services)

Green List (high evidence)

PMID: 36564538
4/7 epilepsy - All four individuals with epilepsy had de novo missense variants
The two siblings with homozygous splice variants did not have epilepsy

PMID: 37029317 - Study on ultra-rare variants in STX1A (studied PMID:36564538)
Suggested there is growing evidence that synaptic vesicle dysfunction plays an important role in the genetic architecture of neurodevelopmental diseases. Showed another example of how different types of mutations in the same gene can have different phenotypic consequences.
Created: 10 Dec 2023, 11:41 p.m. | Last Modified: 10 Dec 2023, 11:41 p.m.
Panel Version: 0.2019

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Neurodevelopmental disorder MONDO#0700092, STX1A-related

Publications

Ain Roesley (Victorian Clinical Genetics Services)

Green List (high evidence)

Preprint: https://www.medrxiv.org/content/10.1101/2022.04.20.22274073v1
8 individuals - 2x hom (related) and 6x hets (all de novo except 1x unknown)

7 unrelated since the 2 siblings share similar features:
7/7 ID, 7/7 motor delay, 4/7 epilepsy, 5/7 neonatal hypotonia 2/7 regression, 2/7 ASD excluding 1 with features but did not meet criteria
Sources: Literature
Created: 5 May 2022, 1:26 a.m.

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
neurodevelopmental disorder MONDO#0700092, STX1A-related

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • neurodevelopmental disorder MONDO#0700092, STX1A-related
OMIM
186590
Clinvar variants
Variants in STX1A
Penetrance
None
Publications
Panels with this gene

History Filter Activity

11 Dec 2023, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: STX1A were set to

5 May 2022, Gel status: 3

Entity classified by Genomics England curator

Ain Roesley (Victorian Clinical Genetics Services)

Gene: stx1a has been classified as Green List (High Evidence).

5 May 2022, Gel status: 3

Entity classified by Genomics England curator

Ain Roesley (Victorian Clinical Genetics Services)

Gene: stx1a has been classified as Green List (High Evidence).

5 May 2022, Gel status: 1

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

Ain Roesley (Victorian Clinical Genetics Services)

gene: STX1A was added gene: STX1A was added to Genetic Epilepsy. Sources: Literature Mode of inheritance for gene: STX1A was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: STX1A were set to neurodevelopmental disorder MONDO#0700092, STX1A-related Review for gene: STX1A was set to GREEN gene: STX1A was marked as current diagnostic