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  3. SYT2
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Newborns additional phenotypes panel 1

Gene: SYT2

Green List (high evidence)
SYT2 (synaptotagmin 2)
EnsemblGeneIds (GRCh38): ENSG00000143858
EnsemblGeneIds (GRCh37): ENSG00000143858
OMIM: 600104, Gene2Phenotype
SYT2 is in 7 panels

2 reviews

Arina Puzriakova (Genomics England Curator)

Special Consideration: Newborns Variant Discussion (NVD) recommended.

Additional Information: Oxford Congenital Myasthenia Service have requested to be involved at the variant review stage. They will be able to assist with variant interpretation and initial management plans.
Created: 25 Sep 2024, 2:14 p.m. | Last Modified: 25 Sep 2024, 2:14 p.m.
Panel Version: 0.100
Special Consideration: Multiple MOIs included.

Additional Information: AD (DN) and AR (LOF) forms of Congenital myasthenic syndrome are included.
Created: 25 Sep 2024, 2:14 p.m. | Last Modified: 25 Sep 2024, 2:14 p.m.
Panel Version: 0.100
Created: 25 Sep 2024, 2:14 p.m.
Last Modified: 25 Sep 2024, 2:14 p.m.
Panel version: 0.100

Mafalda Gomes (Genomics England Curator)

The mechanisms of pathogenicity are loss-of-function (LOF) and dominant-negative (DN).
Created: 7 Jul 2023, 9:27 a.m. | Last Modified: 7 Jul 2023, 9:27 a.m.
Panel Version: 0.31
PMID: 36722210 - 1 recessive case PMID: 33320396 - 1 dominant case and review of 4 previous dominant cases PMID: 34037996 - 1 recessive case PMID: 33659639 - 2 recessive cases
Created: 7 Jul 2023, 9:27 a.m. | Last Modified: 7 Jul 2023, 9:27 a.m.
Panel Version: 0.31
Created: 7 Jul 2023, 9:27 a.m.
Last Modified: 7 Jul 2023, 9:27 a.m.
Panel version: 0.31

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Phenotypes
  • Congenital myasthenic syndrome 7, autosomal dominant
Tags
special_consideration
OMIM
600104
Clinvar variants
Variants in SYT2
Penetrance
None
Mode of Pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Panels with this gene

History Filter Activity

25 Sep 2024, Gel status: 3

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag special_consideration tag was added to gene: SYT2.

6 Feb 2024, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: SYT2 were changed from Congenital myasthenic syndrome 7 to Congenital myasthenic syndrome 7, autosomal dominant

14 Sep 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Congenital myasthenic syndrome 7 for gene: SYT2

5 Jul 2023, Gel status: 3

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

Mafalda Gomes (Genomics England Curator)

gene: SYT2 was added gene: SYT2 was added to Newborns additional phenotypes panel 1. Sources: Expert Review Green Mode of inheritance for gene: SYT2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: SYT2 were set to Congenital myasthenic syndrome 7 Mode of pathogenicity for gene: SYT2 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments