SYP Chromosome X
Synaptophysin
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What This Gene Does
This gene encodes an integral membrane protein of small synaptic vesicles in brain and endocrine cells. The protein also binds cholesterol and is thought to direct targeting of vesicle-associated membrane protein 2 (synaptobrevin) to intracellular compartments. Mutations in this gene are associated with an X-linked form of cognitive disability. [provided by RefSeq, Jul 2017]
Gene Info
Gene Group
"Synaptophysins|MARVEL domain containing"
Locus Type
gene with protein product
Location
Xp11.23
Ensembl
ENSG00000102003
Associated Conditions (6)
History of neurodevelopmental disorder
Charcot-Marie-Tooth disease
Inborn genetic diseases
Intellectual disability
X-linked 96
Neurodevelopmental delay
Key Variants
RS139475570
Conflicting classifications of pathogenicity
History of neurodevelopmental disorder, Charcot-Marie-Tooth disease, History of neurodevelopmental disorder
Health Risk
RS145093168
Conflicting classifications of pathogenicity
Health Risk
RS1557103139
Conflicting classifications of pathogenicity
Health Risk
RS200470034
Conflicting classifications of pathogenicity
Health Risk
RS201427270
Conflicting classifications of pathogenicity
Health Risk
RS376222680
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1557103814
Likely pathogenic
Intellectual disability, X-linked 96, Intellectual disability
Health Risk
RS2065508863
Likely pathogenic
Intellectual disability, X-linked 96, Intellectual disability
Health Risk
RS2147881303
Likely pathogenic
Neurodevelopmental delay, Neurodevelopmental delay
Health Risk
RS2520590361
Likely pathogenic
Intellectual disability, X-linked 96, Intellectual disability
Health Risk
RS137852561
Pathogenic
Intellectual disability, X-linked 96, Intellectual disability
Health Risk
RS2147882650
Pathogenic
Intellectual disability, X-linked 96, Intellectual disability
Health Risk
All Variants (13)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS139475570 | Health Risk | Conflicting classifications of pathogenicity | History of neurodevelopmental disorder, Charcot-Marie-Tooth disease, History of neurodevelopmental disorder |
| RS145093168 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS1557103139 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS200470034 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS201427270 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS376222680 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS1557103814 | Health Risk | Likely pathogenic | Intellectual disability, X-linked 96, Intellectual disability |
| RS2065508863 | Health Risk | Likely pathogenic | Intellectual disability, X-linked 96, Intellectual disability |
| RS2147881303 | Health Risk | Likely pathogenic | Neurodevelopmental delay, Neurodevelopmental delay |
| RS2520590361 | Health Risk | Likely pathogenic | Intellectual disability, X-linked 96, Intellectual disability |
| RS137852561 | Health Risk | Pathogenic | Intellectual disability, X-linked 96, Intellectual disability |
| RS2147882650 | Health Risk | Pathogenic | Intellectual disability, X-linked 96, Intellectual disability |
| RS2147884161 | Health Risk | Pathogenic | Intellectual disability, X-linked 96, Intellectual disability |