Severe early-onset obesity
Gene: NR0B2EnsemblGeneIds (GRCh38): ENSG00000131910
EnsemblGeneIds (GRCh37): ENSG00000131910
OMIM: 604630, Gene2Phenotype
NR0B2 is in 1 panel
3 reviews
Ismaa Farooqi (University of Cambridge)
stephen o'rahilly (university of cambridge)
Mode of inheritance
Unknown
Ayesha Ahmed (GEL)
Comment on list classification: expert review + insuff evidenceCreated: 7 Jul 2016, 7:04 a.m.
Details
- Sources
-
- Expert list
- Expert Review Red
- Emory Genetics Laboratory
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- Obesity, mild, early-onset, 601665
- Congenital Obesity
- OMIM
- 604630
- Clinvar variants
- Variants in NR0B2
- Penetrance
- Complete
- Panels with this gene
History Filter Activity
Added New Source
Ivone Leong (Genomics England Curator)Source Expert list was added to NR0B2.
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
Ayesha Ahmed (GEL)This gene has been classified as Red List (Low Evidence).
Gene classified by Genomics England curator
Ayesha Ahmed (GEL)This gene has been classified as Red List (Low Evidence).
Added New Source
Eik Haraldsdottir (Genomics England)NR0B2 was added to Significant early-onset obesity +/- other endocrine features and short staturepanel. Source: Emory Genetics Laboratory
Added New Source
Eik Haraldsdottir (Genomics England)NR0B2 was added to Significant early-onset obesity +/- other endocrine features and short staturepanel. Sources: Radboud University Medical Center, Nijmegen