Severe early-onset obesity
Gene: NR0B2
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
Gene: nr0b2 has been classified as Red List (Low Evidence).
Phenotypes for gene: NR0B2 were changed from Congenital Obesity; Obesity, mild, early-onset, 601665 to Obesity, mild, early-onset MIM#601665
Publications for gene: NR0B2 were set to
Mode of inheritance for gene: NR0B2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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