SMG9 Chromosome 19
SMG9 nonsense mediated mRNA decay factor
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What This Gene Does
This gene encodes a regulatory subunit of the SMG1 complex, which plays a critical role in nonsense-mediated mRNA decay (NMD). Binding of the encoded protein to the SMG1 complex kinase scaffold protein results in the inhibition of its kinase activity. Mutations in this gene cause a multiple congenital anomaly syndrome in human patients, characterized by brain malformation, congenital heart disease and other features. [provided by RefSeq, Jul 2016]
Gene Info
Gene Group
SMG1 complex
Locus Type
gene with protein product
Location
19q13.31
Ensembl
ENSG00000105771
Associated Conditions (12)
Autism spectrum disorder
Heart and brain malformation syndrome
Abnormal facial shape
Abnormal cardiovascular system morphology
Global developmental delay
Brainstem dysplasia
Neurodevelopmental abnormality
Inborn genetic diseases
Neurodevelopmental disorder with intention tremor
pyramidal signs
dyspraxia
and ocular anomalies
Key Variants
RS372754806
association
Autism spectrum disorder, Autism spectrum disorder
Health Risk
RS869312742
Conflicting classifications of pathogenicity
Heart and brain malformation syndrome, Abnormal facial shape, Abnormal cardiovascular system morphology
Health Risk
RS1968952487
Likely pathogenic
Health Risk
RS767958103
Likely pathogenic
Health Risk
RS869312741
Likely pathogenic
Heart and brain malformation syndrome, Brainstem dysplasia, Abnormal facial shape
Health Risk
RS1418644001
Pathogenic
Heart and brain malformation syndrome, Heart and brain malformation syndrome
Health Risk
RS1968559161
Pathogenic
Neurodevelopmental abnormality, Heart and brain malformation syndrome, Neurodevelopmental abnormality
Health Risk
RS1968802190
Pathogenic
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS377252810
Pathogenic
Neurodevelopmental disorder with intention tremor, pyramidal signs, dyspraxia
Health Risk
RS749498958
Pathogenic
Neurodevelopmental disorder with intention tremor, pyramidal signs, dyspraxia
Health Risk
All Variants (10)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS372754806 | Health Risk | association | Autism spectrum disorder, Autism spectrum disorder |
| RS869312742 | Health Risk | Conflicting classifications of pathogenicity | Heart and brain malformation syndrome, Abnormal facial shape, Abnormal cardiovascular system morphology |
| RS1968952487 | Health Risk | Likely pathogenic | — |
| RS767958103 | Health Risk | Likely pathogenic | — |
| RS869312741 | Health Risk | Likely pathogenic | Heart and brain malformation syndrome, Brainstem dysplasia, Abnormal facial shape |
| RS1418644001 | Health Risk | Pathogenic | Heart and brain malformation syndrome, Heart and brain malformation syndrome |
| RS1968559161 | Health Risk | Pathogenic | Neurodevelopmental abnormality, Heart and brain malformation syndrome, Neurodevelopmental abnormality |
| RS1968802190 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS377252810 | Health Risk | Pathogenic | Neurodevelopmental disorder with intention tremor, pyramidal signs, dyspraxia |
| RS749498958 | Health Risk | Pathogenic | Neurodevelopmental disorder with intention tremor, pyramidal signs, dyspraxia |