1. Panels
  2. Severe early-onset obesity
  3. NR0B2
STRs in panel
Prev Next
Regions in panel
Prev Next

Severe early-onset obesity

Gene: NR0B2

Red List (low evidence)
NR0B2 (nuclear receptor subfamily 0 group B member 2)
EnsemblGeneIds (GRCh38): ENSG00000131910
EnsemblGeneIds (GRCh37): ENSG00000131910
OMIM: 604630, Gene2Phenotype
NR0B2 is in 2 panels

1 review

Daniel Flanagan (Victorian Clinical Genetics Services)

Red List (low evidence)

PMID: 11136233. Three PTC and two missense NR0B2 variants identified in a Japanese cohort of early-onset diabetes patients who were mildly or moderately obese at the onset of diabetes.

PMID: 15459958. Danish cohort of men with early-onset obesity. p.Gly93Asp reported in a 19 year old obese individual and functional analysis indicates that it affects function. No segregation testing done.
Created: 4 Nov 2021, 1:33 a.m. | Last Modified: 4 Nov 2021, 1:33 a.m.
Panel Version: 0.74

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Obesity, mild, early-onset MIM#601665

Publications

Created: 4 Nov 2021, 1:33 a.m.
Last Modified: 4 Nov 2021, 1:33 a.m.
Panel version: 0.74

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Genomics England PanelApp
Phenotypes
  • Obesity, mild, early-onset MIM#601665
OMIM
604630
Clinvar variants
Variants in NR0B2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

4 Nov 2021, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: nr0b2 has been classified as Red List (Low Evidence).

4 Nov 2021, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: NR0B2 were changed from Congenital Obesity; Obesity, mild, early-onset, 601665 to Obesity, mild, early-onset MIM#601665

4 Nov 2021, Gel status: 1

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: NR0B2 were set to

4 Nov 2021, Gel status: 1

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: NR0B2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

31 Oct 2021, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: NR0B2 was added gene: NR0B2 was added to Severe early-onset obesity. Sources: Genomics England PanelApp,Expert Review Red Mode of inheritance for gene: NR0B2 was set to Phenotypes for gene: NR0B2 were set to Congenital Obesity; Obesity, mild, early-onset, 601665