SIM1 Chromosome 6
SIM bHLH transcription factor 1
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What This Gene Does
SIM1 and SIM2 genes are Drosophila single-minded (sim) gene homologs. SIM1 transcript was detected only in fetal kidney out of various adult and fetal tissues tested. Since the sim gene plays an important role in Drosophila development and has peak levels of expression during the period of neurogenesis,it was proposed that the human SIM gene is a candidate for involvement in certain dysmorphic features (particularly the facial and skull characteristics), abnormalities of brain development, and/or cognitive disability of Down syndrome. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
"Basic helix-loop-helix proteins|PAS domain containing"
Locus Type
gene with protein product
Location
6q16.3
Ensembl
ENSG00000112246
Associated Conditions (7)
Monogenic diabetes
Obesity due to SIM1 deficiency
SIM1-related disorder
Inborn genetic diseases
Oromandibular-limb hypogenesis spectrum
Brachydactyly
SIM1-associated metabolic syndrome
Key Variants
RS138546433
Conflicting classifications of pathogenicity
Monogenic diabetes, Obesity due to SIM1 deficiency, SIM1-related disorder
Health Risk
RS138590764
Conflicting classifications of pathogenicity
Obesity due to SIM1 deficiency, Obesity due to SIM1 deficiency
Health Risk
RS145361258
Conflicting classifications of pathogenicity
Obesity due to SIM1 deficiency, SIM1-related disorder, Obesity due to SIM1 deficiency
Health Risk
RS150382307
Conflicting classifications of pathogenicity
Monogenic diabetes, Inborn genetic diseases, SIM1-related disorder
Health Risk
RS200323556
Conflicting classifications of pathogenicity
SIM1-related disorder, Inborn genetic diseases, SIM1-related disorder
Health Risk
RS376356150
Conflicting classifications of pathogenicity
SIM1-related disorder, Inborn genetic diseases, SIM1-related disorder
Health Risk
RS74726213
Conflicting classifications of pathogenicity
Oromandibular-limb hypogenesis spectrum, Obesity due to SIM1 deficiency, Monogenic diabetes
Health Risk
RS753737612
Conflicting classifications of pathogenicity
Obesity due to SIM1 deficiency, SIM1-related disorder, Obesity due to SIM1 deficiency
Health Risk
RS761256648
Conflicting classifications of pathogenicity
Obesity due to SIM1 deficiency, SIM1-related disorder, Obesity due to SIM1 deficiency
Health Risk
RS779506359
Conflicting classifications of pathogenicity
Obesity due to SIM1 deficiency, SIM1-related disorder, Obesity due to SIM1 deficiency
Health Risk
RS1057518333
Likely pathogenic
Brachydactyly, Brachydactyly
Health Risk
RS1064795024
Likely pathogenic
Health Risk
All Variants (17)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS138546433 | Health Risk | Conflicting classifications of pathogenicity | Monogenic diabetes, Obesity due to SIM1 deficiency, SIM1-related disorder |
| RS138590764 | Health Risk | Conflicting classifications of pathogenicity | Obesity due to SIM1 deficiency, Obesity due to SIM1 deficiency |
| RS145361258 | Health Risk | Conflicting classifications of pathogenicity | Obesity due to SIM1 deficiency, SIM1-related disorder, Obesity due to SIM1 deficiency |
| RS150382307 | Health Risk | Conflicting classifications of pathogenicity | Monogenic diabetes, Inborn genetic diseases, SIM1-related disorder |
| RS200323556 | Health Risk | Conflicting classifications of pathogenicity | SIM1-related disorder, Inborn genetic diseases, SIM1-related disorder |
| RS376356150 | Health Risk | Conflicting classifications of pathogenicity | SIM1-related disorder, Inborn genetic diseases, SIM1-related disorder |
| RS74726213 | Health Risk | Conflicting classifications of pathogenicity | Oromandibular-limb hypogenesis spectrum, Obesity due to SIM1 deficiency, Monogenic diabetes |
| RS753737612 | Health Risk | Conflicting classifications of pathogenicity | Obesity due to SIM1 deficiency, SIM1-related disorder, Obesity due to SIM1 deficiency |
| RS761256648 | Health Risk | Conflicting classifications of pathogenicity | Obesity due to SIM1 deficiency, SIM1-related disorder, Obesity due to SIM1 deficiency |
| RS779506359 | Health Risk | Conflicting classifications of pathogenicity | Obesity due to SIM1 deficiency, SIM1-related disorder, Obesity due to SIM1 deficiency |
| RS1057518333 | Health Risk | Likely pathogenic | Brachydactyly, Brachydactyly |
| RS1064795024 | Health Risk | Likely pathogenic | — |
| RS2482134518 | Health Risk | Likely pathogenic | SIM1-associated metabolic syndrome, SIM1-associated metabolic syndrome |
| RS772202157 | Health Risk | Likely pathogenic | SIM1-related disorder, SIM1-related disorder |
| RS2114540946 | Health Risk | Pathogenic | Obesity due to SIM1 deficiency, Obesity due to SIM1 deficiency |
| RS2482136480 | Health Risk | Pathogenic | — |
| RS899526117 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |