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Intellectual disability

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 rating of this gene has been updated to green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.
Created: 26 Sep 2024, 2:57 p.m. | Last Modified: 26 Sep 2024, 2:57 p.m.
Panel Version: 7.41
Comment on list classification: There are six unrelated cases reported with monoallelic variants and two siblings reported with biallelic variants. Hence, the MOI was set to 'MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted'. The rating should be updated to green in the next GMS update.
Created: 21 Jun 2024, 8:21 p.m. | Last Modified: 21 Jun 2024, 8:21 p.m.
Panel Version: 6.31
Comment on list classification: There are six unrelated cases reported with monoallelic variants and two siblings reported with biallelic variants. Hence, the MOI was set to 'MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted'. The rating should be updated to green in the next GMS update.
Created: 21 Jun 2024, 8:21 p.m. | Last Modified: 21 Jun 2024, 8:21 p.m.
Panel Version: 6.31
PMID:36564538 reported the identification of monoallelic STX1A variants in six unrelated individuals (five of them de novo and one unknown) and biallelic variants in two related individuals. All of them presented with a neurodevelopmental disorder and had intellectual disability (Both homozygous individuals had moderate ID, three heterozygous individuals had severe ID. one had profound ID and two had moderate ID).

This gene has been associated with relevant phenotype in Gene2Phenotype (with 'moderate' rating on the DD panel), but has not yet been associated with phenotypes in OMIM.
Sources: Literature
Created: 21 Jun 2024, 8:03 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071

Publications

Created: 21 Jun 2024, 8:03 p.m.

Panel version: 7.41

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • NHS GMS
  • Literature
Phenotypes
  • neurodevelopmental disorder, MONDO:0700092
  • intellectual disability, MONDO:0001071
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

Removed Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag Q2_24_promote_green was removed from gene: STX1A.

26 Sep 2024, Gel status: 3

Added New Source, Added New Source, Status Update

Achchuthan Shanmugasundram (Genomics England Curator)

Source NHS GMS was added to STX1A. Source Expert Review Green was added to STX1A. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

21 Jun 2024, Gel status: 2

Entity classified by Genomics England curator

Achchuthan Shanmugasundram (Genomics England Curator)

Gene: stx1a has been classified as Amber List (Moderate Evidence).

21 Jun 2024, Gel status: 2

Entity classified by Genomics England curator

Achchuthan Shanmugasundram (Genomics England Curator)

Gene: stx1a has been classified as Amber List (Moderate Evidence).

21 Jun 2024, Gel status: 2

Entity classified by Genomics England curator

Achchuthan Shanmugasundram (Genomics England Curator)

Gene: stx1a has been classified as Amber List (Moderate Evidence).

21 Jun 2024, Gel status: 2

Entity classified by Genomics England curator

Achchuthan Shanmugasundram (Genomics England Curator)

Gene: stx1a has been classified as Amber List (Moderate Evidence).

21 Jun 2024, Gel status: 1

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

Achchuthan Shanmugasundram (Genomics England Curator)

gene: STX1A was added gene: STX1A was added to Intellectual disability. Sources: Literature Q2_24_promote_green tags were added to gene: STX1A. Mode of inheritance for gene: STX1A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: STX1A were set to 36564538 Phenotypes for gene: STX1A were set to neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071 Review for gene: STX1A was set to GREEN