GIGYF1 Chromosome 7
GRB10 interacting GYF protein 1
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What This Gene Does
This gene encodes a member of the gyf family of adaptor proteins. The encoded protein contains a gyf protein interaction domain. It binds growth factor receptor bound 10, another adaptor protein that binds activated insulin-like growth factor 1 and insulin receptors and regulates receptor signaling. [provided by RefSeq, Apr 2017]
Gene Info
Gene Group
Armadillo like helical domain containing
Locus Type
gene with protein product
Location
7q22.1
Ensembl
ENSG00000146830
Associated Conditions (5)
Neurodevelopmental disorder
Gigyf1-related Developmental Disorder
GIGYF1-associated disorder
GIGYF1-related disorder
Autism spectrum disorder
Key Variants
RS770150936
Conflicting classifications of pathogenicity
Neurodevelopmental disorder, Gigyf1-related Developmental Disorder, Neurodevelopmental disorder
Health Risk
RS142379458
Likely pathogenic
GIGYF1-associated disorder, GIGYF1-associated disorder
Health Risk
RS2131385503
Likely pathogenic
GIGYF1-related disorder, GIGYF1-related disorder
Health Risk
RS2486260795
Likely pathogenic
GIGYF1-related disorder, GIGYF1-related disorder
Health Risk
RS2486270150
Likely pathogenic
GIGYF1-related disorder, GIGYF1-related disorder
Health Risk
RS2486276957
Likely pathogenic
GIGYF1-related disorder, GIGYF1-related disorder
Health Risk
RS1163941038
Pathogenic
Autism spectrum disorder, Autism spectrum disorder
Health Risk
RS776212530
Pathogenic
Neurodevelopmental disorder, Neurodevelopmental disorder
Health Risk
All Variants (8)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS770150936 | Health Risk | Conflicting classifications of pathogenicity | Neurodevelopmental disorder, Gigyf1-related Developmental Disorder, Neurodevelopmental disorder |
| RS142379458 | Health Risk | Likely pathogenic | GIGYF1-associated disorder, GIGYF1-associated disorder |
| RS2131385503 | Health Risk | Likely pathogenic | GIGYF1-related disorder, GIGYF1-related disorder |
| RS2486260795 | Health Risk | Likely pathogenic | GIGYF1-related disorder, GIGYF1-related disorder |
| RS2486270150 | Health Risk | Likely pathogenic | GIGYF1-related disorder, GIGYF1-related disorder |
| RS2486276957 | Health Risk | Likely pathogenic | GIGYF1-related disorder, GIGYF1-related disorder |
| RS1163941038 | Health Risk | Pathogenic | Autism spectrum disorder, Autism spectrum disorder |
| RS776212530 | Health Risk | Pathogenic | Neurodevelopmental disorder, Neurodevelopmental disorder |