NR0B1

nuclear receptor subfamily 0 group B member 1
OMIM: 300473
PanelMode of inheritanceDetails
3 panels
R-numbers: R150
Signed-off version 2.2
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
46XY sex reversal 2, dosage-sensitive, 300018, Adrenal hypoplasia, congenital, with hypogonadotropic hypogonadism, 300200, Adrenal Hypoplasia, Congenital, AHC, Ideopathic Primary Adrenal Failure, Congenital Adrenal Hypoplasia, males with combined glucocorticoid and mineralocorticoid insufficiency with a family history consistent with an X-linked disorder
R-numbers: R146
Signed-off version 2.2
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
6XY sex reversal 2, dosage-sensitive 300018, Adrenal hypoplasia, congenital 300200
R-numbers: R21
Signed-off version 1.92
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
Adrenal hypoplasia, congenital 300200, 46XY sex reversal 2, dosage-sensitive 300018