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  3. SYT1
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Dystonia - complex

Gene: SYT1

Green List (high evidence)
SYT1 (synaptotagmin 1)
EnsemblGeneIds (GRCh38): ENSG00000067715
EnsemblGeneIds (GRCh37): ENSG00000067715
OMIM: 185605, Gene2Phenotype
SYT1 is in 5 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

4 out of 11 cases with a de novo variant had dystonia as a feature of the phenotype.
Sources: Expert list
Created: 6 Apr 2020, 7:16 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Baker-Gordon syndrome MIM#618218

Publications

Created: 6 Apr 2020, 7:16 a.m.

Panel version: 0.50

Details

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

History Filter Activity

6 Sep 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: syt1 has been classified as Green List (High Evidence).

6 Apr 2020, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: syt1 has been classified as Green List (High Evidence).

6 Apr 2020, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

gene: SYT1 was added gene: SYT1 was added to Dystonia - complex. 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