Genetic Epilepsy

Gene: STX1A

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

• 37029317
• 36564538

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