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DDG2P

Gene: SYT1

Red List (low evidence)

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

1 review

Rebecca Foulger (Genomics England curator)

I don't know

Original DDG2P rating: possible. DDG2P mode of pathogenicity: all missense/in frame
Created: 19 Nov 2018, 11:31 a.m.

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Red
Phenotypes
  • INTELLECTUAL DISABILITY
OMIM
185605
Clinvar variants
Variants in SYT1
Penetrance
None
Publications
Mode of Pathogenicity
Other - please provide details in the comments
Panels with this gene

History Filter Activity

29 Jan 2019, Gel status: 1

Panel promoted to version 1.0

Rebecca Foulger (Genomics England curator)

Rebecca Foulger: Original DDG2P rating: possibl

19 Nov 2018, Gel status: 1

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

Rebecca Foulger (Genomics England curator)

gene: SYT1 was added gene: SYT1 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: SYT1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SYT1 were set to 25705886 Phenotypes for gene: SYT1 were set to INTELLECTUAL DISABILITY Mode of pathogenicity for gene: SYT1 was set to Other - please provide details in the comments