Summary Statistics:
Gene Score: S
Relevance to Autism
A de novo missense variant in the SYT1 gene that was predicted to be damaging was detected in an ASD proband from the Autism Sequencing Consortium (De Rubeis et al., 2014). Baker et al., 2018 described 11 individuals with de novo SYT1 missense variants that presented with a neurodevelopmental disorder characterized by infantile hypotonia, congenital ophthalmic abnormalities, childhood-onset hyperkinetic movements disorder, motor stereotypies, and developmental delay; impaired social development was also a common feature, with six of these individuals reportedly showing poor or no eye contact, limited interest in social interactions, and an absence of normal imitative behaviors.
Molecular Function
The synaptotagmins are integral membrane proteins of synaptic vesicles thought to serve as Ca(2+) sensors in the process of vesicular trafficking and exocytosis. Calcium binding to synaptotagmin-1 participates in triggering neurotransmitter release at the synapse.
References
Primary
Synaptic, transcriptional and chromatin genes disrupted in autism.
ASD
Support
Expanding Phenotype of SYT1-Related Neurodevelopmental Disorder: Case Report and Literature Review
Baker-Gordon syndrome, DD, epilepsy/seizures
Autistic features, stereotypy
Support
Integrating de novo and inherited variants in 42
ASD
Support
Genetic variants identification through whole-genome sequencing based on dried blood spots in 92 Chinese children with Autism.
ASD
Support
Diagnostic yield of patients with undiagnosed intellectual disability
DD, ID
Support
New insights into neurodevelopmental disorders by whole genome sequencing of 100 families from Italy
ASD, ADHD, SLD
Support
Trio-based exome sequencing reveals a high rate of the de novo variants in intellectual disability
BPD, ID, epilepsy/seizures
Support
Correlation between evoked neurotransmitter release and adaptive functions in SYT1-associated neurodevelopmental disorder
Baker-Gordon syndrome
ASD or autistic features, DD
Support
Expanding the genotype and phenotype spectrum of SYT1-associated neurodevelopmental disorder
DD
ASD, epilepsy/seizures
Support
A de novo missense mutation in synaptotagmin-1 associated with neurodevelopmental disorder desynchronizes neurotransmitter release
DD
Autistic features
Support
A single center experience with publicly funded clinical exome sequencing for neurodevelopmental disorders or multiple congenital anomalies
ADHD, DD, ID, epilepsy/seizures
Support
c.1103T>C (p.Ile368Th) de novo Variant in Synaptotagmin 1 (SYT1) Gene is Pathogenic, Leading to an Ultra-Rare Neurodevelopmental Disorder: The Baker-Gordon Syndrome
Baker-Gordon syndrome, DD, ID
Support
Molecular Basis for Synaptotagmin-1-Associated Neurodevelopmental Disorder
Baker-Gordon syndrome
Recent Recommendation
SYT1-associated neurodevelopmental disorder: a case series.
DD, infantile hypotonia, behavioral abnormalities
Impaired social development, motor stereotypies
Recent Recommendation
Genomic landscape of rare variants in a Chinese autism cohort and discovery of novel risk genes.
ASD
GEN1034R001
missense_variant
c.587C>G
p.Thr196Arg
De novo
GEN1034R002
missense_variant
c.908T>A
p.Met303Lys
De novo
GEN1034R003
missense_variant
c.911A>G
p.Asp304Gly
De novo
GEN1034R004
missense_variant
c.1103T>C
p.Ile368Thr
De novo
GEN1034R005
missense_variant
c.1103T>C
p.Ile368Thr
De novo
GEN1034R006
missense_variant
c.1103T>C
p.Ile368Thr
De novo
GEN1034R007
missense_variant
c.1103T>C
p.Ile368Thr
De novo
GEN1034R008
missense_variant
c.1098C>A
p.Asp366Glu
De novo
GEN1034R009
missense_variant
c.1098C>A
p.Asp366Glu
De novo
GEN1034R010
missense_variant
c.1098C>A
p.Asp366Glu
De novo
GEN1034R011
missense_variant
c.1113C>G
p.Asn371Lys
De novo
GEN1034R012
missense_variant
c.1113C>G
p.Asn371Lys
De novo
GEN1034R013
missense_variant
c.911A>G
p.Asp304Gly
De novo
GEN1034R014
missense_variant
p.Asp366Glu
De novo
GEN1034R015
stop_gained
c.1198C>T
p.Arg400Ter
De novo
Simplex
GEN1034R016
missense_variant
c.476T>G
p.Leu159Arg
De novo
GEN1034R017
missense_variant
c.587C>A
p.Thr196Lys
De novo
GEN1034R018
missense_variant
c.625G>A
p.Glu209Lys
De novo
GEN1034R019
missense_variant
c.655G>C
p.Glu219Gln
De novo
GEN1034R020
missense_variant
c.907A>G
p.Met303Val
De novo
GEN1034R021
missense_variant
c.925T>C
p.Ser309Pro
De novo
GEN1034R022
missense_variant
c.1022A>G
p.Asn341Ser
De novo
GEN1034R023
missense_variant
c.1094A>G
p.Tyr365Cys
De novo
GEN1034R024
inframe_insertion
c.1100_1102dup
p.Lys367dup
De novo
GEN1034R025
missense_variant
c.1103T>C
p.Ile368Thr
De novo
GEN1034R026
missense_variant
c.1106G>A
p.Gly369Asp
De novo
GEN1034R027
missense_variant
c.928G>C
p.Asp310His
De novo
GEN1034R028
missense_variant
c.1103T>C
p.Ile368Thr
De novo
GEN1034R029
missense_variant
c.10G>A
p.Glu4Lys
De novo
GEN1034R030
missense_variant
c.844C>T
p.Arg282Cys
De novo
GEN1034R031
missense_variant
c.1094A>G
p.Tyr365Cys
De novo
GEN1034R032
inframe_insertion
c.1101_1103dup
p.Lys367_Ile368insMet
De novo
GEN1034R033
missense_variant
c.1103T>C
p.Ile368Thr
De novo
Simplex
GEN1034R034
missense_variant
c.1202C>T
p.Pro401Leu
De novo
Simplex
GEN1034R035
missense_variant
c.1228G>A
p.Val410Ile
Familial
Maternal
Simplex
GEN1034R036
missense_variant
c.616G>C
p.Val206Leu
Unknown
GEN1034R037
missense_variant
c.928G>C
p.Asp310His
De novo
Simplex
No Common Variants Available
12
Deletion-Duplication
11
