Differences in sex development
Gene: NR0B1

NR0B1 (nuclear receptor subfamily 0 group B member 1)
EnsemblGeneIds (GRCh38): ENSG00000169297
EnsemblGeneIds (GRCh37): ENSG00000169297
OMIM: 300473, Gene2Phenotype
NR0B1 is in 5 panels

2 reviews

Ivone Leong (Genomics England Curator)

Green List (high evidence)

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.

Created: 29 Apr 2019, 9:46 a.m.

Panel version: 1.32

Sarah Leigh (Genomics England Curator)

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.

Created: 20 Sep 2016, 9:43 a.m.

Panel version: 0.200

Details

Mode of Inheritance

X-LINKED: hemizygous mutation in males, biallelic mutations in females

Sources

Expert Review Green
Radboud University Medical Center, Nijmegen
Other
Emory Genetics Laboratory
UKGTN

Phenotypes

6XY sex reversal 2, dosage-sensitive 300018
Adrenal hypoplasia, congenital 300200

OMIM

300473

Clinvar variants

Variants in NR0B1

Penetrance

Complete

Panels with this gene