Disorders of sex developmentGene: NR0B1
As discussed in the GMS Endocrinology Specialist Test Group webex call 28th Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green.
Created: 29 Apr 2019, 9:46 a.m.
Comment when marking as ready: Associated with phenotypes in OMIM, not in G2P / DD. Numerous variants loss of function variants reported in Adrenal hypoplasia, congenital 300200 and one duplication in 46XY sex reversal 2, dosage-sensitive 300018
Created: 5 Dec 2016, 9:25 a.m.
Promoted to V1 21/12/2016
This gene has been classified as Green List (High Evidence).
Phenotypes for gene NR0B1 were set to 6XY sex reversal 2, dosage-sensitive 300018; Adrenal hypoplasia, congenital 300200
NR0B1 was added to Disorders of sex developmentpanel. Sources: Emory Genetics Laboratory,Other,Radboud University Medical Center, Nijmegen,UKGTN
NR0B1 was added to Disorders of sex developmentpanel. Sources: UKGTN
NR0B1 was created by sleigh