1. Panels
  2. Newborns main panel
  3. SYT2
Genes in panel
Prev Next
STRs in panel
Prev Next
Regions in panel
Prev Next

Newborns main panel

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: 0.469
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: 0.469
Created: 25 Sep 2024, 2:14 p.m.
Last Modified: 25 Sep 2024, 2:14 p.m.
Panel version: 0.469

Mafalda Gomes (Genomics England Curator)

The mechanisms of pathogenicity are loss-of-function (LOF) and dominant-negative (DN).
Created: 1 Jun 2023, 2:40 p.m. | Last Modified: 1 Jun 2023, 2:40 p.m.
Panel Version: 0.137
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: 1 Jun 2023, 12:22 p.m. | Last Modified: 1 Jun 2023, 12:22 p.m.
Panel Version: 0.135
Created: 1 Jun 2023, 12:22 p.m.
Last Modified: 1 Jun 2023, 12:22 p.m.
Panel version: 0.137

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Congenital myasthenic syndrome 7, autosomal recessive
Tags
special_consideration
OMIM
600104
Clinvar variants
Variants in SYT2
Penetrance
None
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 recessive

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

Added New Source, Set mode of inheritance, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Green was added to SYT2. Mode of inheritance for gene SYT2 was changed from BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Congenital myasthenic syndrome 7 for gene: SYT2 Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

1 Jun 2023, Gel status: 2

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Phenotypes for gene: SYT2 were changed from Congenital myasthenic syndrome 7; Congenital myasthenic syndrome-7 to Congenital myasthenic syndrome 7

31 May 2023, Gel status: 2

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Amber was added to SYT2. Added phenotypes Congenital myasthenic syndrome 7 for gene: SYT2 Rating Changed from No List (delete) to Amber List (moderate evidence)

27 Mar 2023, Gel status: 0

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

Mafalda Gomes (Genomics England Curator)

gene: SYT2 was added gene: SYT2 was added to Newborns main panel. Sources: Expert Review Removed Mode of inheritance for gene: SYT2 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Phenotypes for gene: SYT2 were set to Congenital myasthenic syndrome-7