Severe early-onset obesity
Gene: SIM1EnsemblGeneIds (GRCh38): ENSG00000112246
EnsemblGeneIds (GRCh37): ENSG00000112246
OMIM: 603128, Gene2Phenotype
SIM1 is in 3 panels
5 reviews
Ivone Leong (Genomics England Curator)
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
Ismaa Farooqi (University of Cambridge)
Variants in this GENE are reported as part of current diagnostic practice
stephen o'rahilly (university of cambridge)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Ellen McDonagh (Genomics England Curator)
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.
Ayesha Ahmed (GEL)
Comment on list classification: expert opinion + evidence from literatureCreated: 7 Jul 2016, 7:33 a.m.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Emory Genetics Laboratory
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- obesity
- Congenital Obesity
- Tags
- OMIM
- 603128
- Clinvar variants
- Variants in SIM1
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
Added Tag
Eleanor Williams (Genomics England Curator)Tag gene-checked tag was added to gene: SIM1.
Set Phenotypes
Ivone Leong (Genomics England Curator)Phenotypes for gene: SIM1 were changed from Obesity, severe, 601665; obesity; Congenital Obesity to obesity; Congenital Obesity
Set publications
Ivone Leong (Genomics England Curator)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
Added New Source, Set Phenotypes, Status Update
Ivone Leong (Genomics England Curator)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)
panel promoted to version 1
Ellen McDonagh (Genomics England Curator)25/Oct/2016: Panel revised according to expert review and additional curation with internal discussion. Ready to be promoted to version 1.
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Amber List (Moderate Evidence).
Set publications
Ellen McDonagh (Genomics England Curator)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
Set publications
Ellen McDonagh (Genomics England Curator)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
Set publications
Ellen McDonagh (Genomics England Curator)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.
Gene classified by Genomics England curator
Ayesha Ahmed (GEL)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Ayesha Ahmed (GEL)This gene has been classified as Green List (High Evidence).
Added New Source
stephen o'rahilly (university of cambridge)SIM1 was added to Significant early-onset obesity +/- other endocrine features and short staturepanel. Source: Expert Review
Set Mode of Inheritance, Added New Source
stephen o'rahilly (university of cambridge)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
Added New Source
Eik Haraldsdottir (Genomics England)SIM1 was added to Significant early-onset obesity +/- other endocrine features and short staturepanel. Source: Emory Genetics Laboratory
Added New Source
Eik Haraldsdottir (Genomics England)SIM1 was added to Significant early-onset obesity +/- other endocrine features and short staturepanel. Sources: Radboud University Medical Center, Nijmegen