Severe early-onset obesity
Gene: SIM1
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;16924270Created: 17 Mar 2021, 1:47 p.m. | Last Modified: 17 Mar 2021, 1:47 p.m.
Panel Version: 2.30
SIM1 is associated with a phenotype on Gene2Phenotype but not on OMIM. There is enough evidence to support a gene-disease association. Therefore, this gene should be green.Created: 15 Aug 2019, 2:02 p.m. | Last Modified: 15 Aug 2019, 2:02 p.m.
Panel Version: 1.22
Variants in this GENE are reported as part of current diagnostic practice
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Comment on list classification: Unsure whether this should be green, as there is not full penetrance and there are studies where cosegregation with early onset obesity is not clear or has been reported as not co-segregating with obesity.Created: 19 Oct 2016, 7:10 a.m.
Comment on list classification: expert opinion + evidence from literatureCreated: 7 Jul 2016, 7:33 a.m.
Tag gene-checked tag was added to gene: SIM1.
Phenotypes for gene: SIM1 were changed from Obesity, severe, 601665; obesity; Congenital Obesity to obesity; Congenital Obesity
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
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)
25/Oct/2016: Panel revised according to expert review and additional curation with internal discussion. Ready to be promoted to version 1.
This gene has been classified as Amber List (Moderate Evidence).
Publications for 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
Publications for 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
Publications for 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.
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
SIM1 was added to Significant early-onset obesity +/- other endocrine features and short staturepanel. Source: Expert Review
SIM1 was added to Significant early-onset obesity +/- other endocrine features and short staturepanel. Source: Expert list Model of inheritance for gene SIM1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
SIM1 was added to Significant early-onset obesity +/- other endocrine features and short staturepanel. Source: Emory Genetics Laboratory
SIM1 was added to Significant early-onset obesity +/- other endocrine features and short staturepanel. Sources: Radboud University Medical Center, Nijmegen