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  3. SYT1
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Childhood onset dystonia, chorea or related movement disorder

Gene: SYT1

Green List (high evidence)
SYT1 (synaptotagmin 1)
EnsemblGeneIds (GRCh38): ENSG00000067715
EnsemblGeneIds (GRCh37): ENSG00000067715
OMIM: 185605, Gene2Phenotype
SYT1 is in 3 panels

2 reviews

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: 4 May 2024, 6:04 p.m. | Last Modified: 4 May 2024, 6:14 p.m.
Panel Version: 4.3
Comment on list classification: As reviewed by Zornitza Stark, there are four unrelated children with dystonia as a feature of Baker-Gordon syndrome. Hence, this gene should be promoted to green rating at the next major update.
Created: 9 Aug 2023, 7:42 p.m. | Last Modified: 10 Aug 2023, 4:33 p.m.
Panel Version: 3.38

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Baker-Gordon syndrome, OMIM:618218

Publications

Created: 9 Aug 2023, 7:40 p.m.
Last Modified: 4 May 2024, 6:14 p.m.
Panel version: 4.3

Zornitza Stark (Australian Genomics)

Green List (high evidence)

4 out of 11 individuals with a de novo variant had dystonia as a feature of the phenotype.
Sources: Expert list
Created: 10 Sep 2020, 8:35 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Baker-Gordon syndrome MIM#618218

Publications

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

Created: 10 Sep 2020, 8:35 p.m.

Panel version: 1.51

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Baker-Gordon syndrome MIM#618218
OMIM
185605
Clinvar variants
Variants in SYT1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

4 May 2024, Gel status: 3

Removed Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag Q3_23_promote_green was removed from gene: SYT1.

4 May 2024, Gel status: 3

Added New Source, Added New Source, Status Update

Achchuthan Shanmugasundram (Genomics England Curator)

Source Expert Review Green was added to SYT1. Source NHS GMS was added to SYT1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

9 Aug 2023, Gel status: 2

Entity classified by Genomics England curator

Achchuthan Shanmugasundram (Genomics England Curator)

Gene: syt1 has been classified as Amber List (Moderate Evidence).

9 Aug 2023, Gel status: 0

Added Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag Q3_23_promote_green tag was added to gene: SYT1.

10 Sep 2020, Gel status: 0

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

Zornitza Stark (Australian Genomics)

gene: SYT1 was added gene: SYT1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: Expert list Mode of inheritance for gene: SYT1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SYT1 were set to 30107533 Phenotypes for gene: SYT1 were set to Baker-Gordon syndrome MIM#618218 Review for gene: SYT1 was set to GREEN gene: SYT1 was marked as current diagnostic