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Severe early-onset obesity v2.49 | SIM1 | Eleanor Williams Tag gene-checked tag was added to gene: SIM1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe early-onset obesity v2.31 | SIM1 | Ivone Leong Phenotypes for gene: SIM1 were changed from Obesity, severe, 601665; obesity; Congenital Obesity to obesity; Congenital Obesity | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe early-onset obesity v2.30 | SIM1 | Ivone Leong Added comment: Comment on publications: 25805767;24814368 (functional evidence);24260538 - SIM1 deficient mice exhibit early onset obesity and increased sensitivity to a high fat diet;24097297 - rare variants identified in obese individuals that resulted in a a decrease in transcriptional activity was observed, and rare variants identified in lean individuals had transcriptional activity similar to wild type;23778139 - case-control study, variable penetrance of the variants in extended family studies;23778136;16924270 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe early-onset obesity v2.30 | SIM1 | Ivone Leong Publications for gene: SIM1 were set to 25805767; 24814368 (functional evidence); 24260538 - SIM1 deficient mice exhibit early onset obesity and increased sensitivity to a high fat diet; 24097297 - rare variants identified in obese individuals that resulted in a a decrease in transcriptional activity was observed, and rare variants identified in lean individuals had transcriptional activity similar to wild type; 23778139 - case-control study, variable penetrance of the variants in extended family studies; 23778136; 16924270 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe early-onset obesity v1.22 | SIM1 | Ivone Leong reviewed gene: SIM1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe early-onset obesity v1.22 | SIM1 | Ismaa Farooqi reviewed gene: SIM1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe early-onset obesity v1.21 | SIM1 |
Ivone Leong Source Expert Review Green was added to SIM1. Added phenotypes Obesity, severe, 601665; obesity; Congenital Obesity for gene: SIM1 Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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Severe early-onset obesity | SIM1 | Ellen McDonagh classified SIM1 as amber | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe early-onset obesity | SIM1 | Ellen McDonagh commented on SIM1 |