SHANK1 Chromosome 19
SH3 and multiple ankyrin repeat domains 1
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What This Gene Does
This gene encodes a member of the SHANK (SH3 domain and ankyrin repeat containing) family of proteins. Members of this family act as scaffold proteins that are required for the development and function of neuronal synapses. Deletions in this gene may be associated with autism spectrum disorder in males. [provided by RefSeq, Apr 2016]
Gene Info
Gene Group
"Ankyrin repeat domain containing|Sterile alpha motif domain containing|PDZ domain containing"
Locus Type
gene with protein product
Location
19q13.33
Ensembl
ENSG00000161681
Associated Conditions (7)
Inborn genetic diseases
SHANK1-related disorder
Intellectual disability
SHANK1-related autism
SHANK1-associated disorder
SHANK1-related Neurodevelopmental Disorder
See cases
Key Variants
RS200883351
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS764924872
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS2513919782
Likely pathogenic
SHANK1-related disorder, SHANK1-related disorder
Health Risk
RS2513940332
Likely pathogenic
Intellectual disability, Intellectual disability
Health Risk
RS770588422
Likely pathogenic
SHANK1-related autism, SHANK1-related autism
Health Risk
RS1023212658
Pathogenic
Health Risk
RS138273094
Pathogenic
Intellectual disability, Intellectual disability
Health Risk
RS2123178553
Pathogenic
Health Risk
RS2513940954
Pathogenic
Health Risk
RS1210431144
Pathogenic/Likely pathogenic
SHANK1-associated disorder, SHANK1-associated disorder
Health Risk
RS2123136215
Pathogenic/Likely pathogenic
SHANK1-related Neurodevelopmental Disorder, See cases, SHANK1-related Neurodevelopmental Disorder
Health Risk
All Variants (11)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS200883351 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS764924872 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS2513919782 | Health Risk | Likely pathogenic | SHANK1-related disorder, SHANK1-related disorder |
| RS2513940332 | Health Risk | Likely pathogenic | Intellectual disability, Intellectual disability |
| RS770588422 | Health Risk | Likely pathogenic | SHANK1-related autism, SHANK1-related autism |
| RS1023212658 | Health Risk | Pathogenic | — |
| RS138273094 | Health Risk | Pathogenic | Intellectual disability, Intellectual disability |
| RS2123178553 | Health Risk | Pathogenic | — |
| RS2513940954 | Health Risk | Pathogenic | — |
| RS1210431144 | Health Risk | Pathogenic/Likely pathogenic | SHANK1-associated disorder, SHANK1-associated disorder |
| RS2123136215 | Health Risk | Pathogenic/Likely pathogenic | SHANK1-related Neurodevelopmental Disorder, See cases, SHANK1-related Neurodevelopmental Disorder |