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DDG2P

Gene: STX1A

Green List (high evidence)
STX1A (syntaxin 1A)
EnsemblGeneIds (GRCh38): ENSG00000106089
EnsemblGeneIds (GRCh37): ENSG00000106089
OMIM: 186590, Gene2Phenotype
STX1A is in 2 panels

1 review

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

The DDG2P confidence category for the disease STX1A-associated neurodevelopmental disorder with epilepsy is moderate. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMID: 36564538). The DDG2P confidence category for the disease STX1A-associated neurodevelopmental disorder without epilepsy is limited. The allelic requirement and mutation consequence are biallelic_autosomal and absent gene product (PMID: 36564538).
Created: 26 Sep 2024, 8:30 p.m. | Last Modified: 26 Sep 2024, 8:30 p.m.
Panel Version: 4.10

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

Phenotypes
STX1A-associated neurodevelopmental disorder with epilepsy; STX1A-associated neurodevelopmental disorder without epilepsy

Publications

Created: 26 Sep 2024, 8:30 p.m.
Last Modified: 26 Sep 2024, 8:30 p.m.
Panel version: 4.10

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • STX1A-associated neurodevelopmental disorder with epilepsy
  • STX1A-associated neurodevelopmental disorder without epilepsy
Tags
gene-checked
OMIM
186590
Clinvar variants
Variants in STX1A
Penetrance
None
Publications
Panels with this gene

History Filter Activity

3 Oct 2024, Gel status: 3

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag gene-checked tag was added to gene: STX1A.

26 Sep 2024, Gel status: 3

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

Achchuthan Shanmugasundram (Genomics England Curator)

gene: STX1A was added gene: STX1A was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: STX1A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: STX1A were set to 36564538 Phenotypes for gene: STX1A were set to STX1A-associated neurodevelopmental disorder with epilepsy; STX1A-associated neurodevelopmental disorder without epilepsy