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  3. SIM1
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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 3 panels

1 review

Ain Roesley (Victorian Clinical Genetics Services)

Green List (high evidence)

At least 20 probands with reduced penetrance reported.

PMID:33434169;
1x missense inherited from normal mother

PMID:30926952;
2x unrelated - 1 missense 1 splice. Family history noted

PMID:23778136;
4 children with clinical features of PWL syndrome, including severe obesity - all missense
1x inherited from normal father

PMID:23778139;
at least 13 families with segregation and reduced penetrance evidence - all missense
In vitro luciferase done to show LoF

NOTE:
Individuals with Prader-Willi-like phenotype may have 6q16.2del instead, which encompasses SIM1
Created: 31 Oct 2021, 10:52 p.m. | Last Modified: 31 Oct 2021, 10:52 p.m.
Panel Version: 0.22

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
congenital obesity; Prader-Willi-like syndrome

Publications

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

Created: 31 Oct 2021, 10:52 p.m.
Last Modified: 31 Oct 2021, 10:52 p.m.
Panel version: 0.22

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • congenital obesity
  • Prader-Willi-like syndrome
OMIM
603128
Clinvar variants
Variants in SIM1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

1 Nov 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: sim1 has been classified as Green List (High Evidence).

1 Nov 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: SIM1 were changed from obesity; Congenital Obesity to congenital obesity; Prader-Willi-like syndrome

31 Oct 2021, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: SIM1 was added gene: SIM1 was added to Severe early-onset obesity. Sources: Genomics England PanelApp,Expert Review Green Mode of inheritance for gene: SIM1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SIM1 were set to 24097297; 25805767; 24260538; 23778136; 16924270; 23778139; 24814368 Phenotypes for gene: SIM1 were set to obesity; Congenital Obesity