Severe early-onset obesity

Gene: SIM1

Green List (high evidence)

SIM1 (single-minded family bHLH transcription factor 1)
EnsemblGeneIds (GRCh38): ENSG00000112246
EnsemblGeneIds (GRCh37): ENSG00000112246
OMIM: 603128, Gene2Phenotype
SIM1 is in 4 panels

5 reviews

Ivone Leong (Genomics England Curator)

Green List (high evidence)

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
Created: 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)

Green List (high evidence)

Variants in this GENE are reported as part of current diagnostic practice

stephen o'rahilly (university of cambridge)

Green List (high evidence)

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 literature
Created: 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
OMIM
603128
Clinvar variants
Variants in SIM1
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

17 Mar 2021, Gel status: 3

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: SIM1 were changed from Obesity, severe, 601665; obesity; Congenital Obesity to obesity; Congenital Obesity

17 Mar 2021, Gel status: 3

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

15 Aug 2019, Gel status: 3

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)

25 Oct 2016, Gel status: 2

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.

18 Oct 2016, Gel status: 2

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

18 Oct 2016, Gel status: 4

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

18 Oct 2016, Gel status: 4

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

18 Oct 2016, Gel status: 4

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.

7 Jul 2016, Gel status: 4

Gene classified by Genomics England curator

Ayesha Ahmed (GEL)

This gene has been classified as Green List (High Evidence).

7 Jul 2016, Gel status: 4

Gene classified by Genomics England curator

Ayesha Ahmed (GEL)

This gene has been classified as Green List (High Evidence).

27 Dec 2015, Gel status: 2

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

27 Dec 2015, Gel status: 2

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

18 Aug 2015, Gel status: 2

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

18 Aug 2015, Gel status: 1

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