NR0B1

nuclear receptor subfamily 0 group B member 1
OMIM: 300473, Gene2Phenotype

6 panels

Panel Reviews Mode of inheritance Details
6 panels

Green NR0B1 in Congenital adrenal hypoplasia

Level 3: Adrenal disorders
Level 2: Endocrine disorders
Version 2.7
Latest signed off version: v2.2 (19 Feb 2020)

review X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Eligibility statement prior genetic testing
  • Expert list
  • UKGTN
  • Radboud University Medical Center, Nijmegen
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

Green NR0B1 in Hypogonadotropic hypogonadism

Level 3: Hypothalamic and pituitary disorders
Level 2: Endocrine disorders
Version 1.33

review X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Literature
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
  • UKGTN
  • OMIM
Phenotypes
  • Adrenal hypoplasia, congenital, with hypogonadotropic hypogonadism 300200

Red NR0B1 in Hypogonadotropic hypogonadism idiopathic


Version 1.47
Latest signed off version: v1.4 (4 Mar 2020)

review X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Wessex and West Midlands GLH
  • Expert Review Red
  • NHS GMS
  • South West GLH
Phenotypes
  • 46XY sex reversal type 2 (OMIM 300018)

Green NR0B1 in Disorders of sex development

Level 3: Gonadal and sex development disorders
Level 2: Endocrine disorders
Version 2.51
Latest signed off version: v2.2 (3 Mar 2020)

review 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

Green NR0B1 in Fetal anomalies


Version 1.749
Latest signed off version: v1.92 (21 Aug 2020)

review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • PAGE Additional Gene List
  • Expert Review Green
Phenotypes
  • Adrenal hypoplasia, congenital 300200
  • 46XY sex reversal 2, dosage-sensitive 300018

Green NR0B1 in Severe Paediatric Disorders


Version 1.84

review X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Next Generation Children Project
  • Expert Review Green
  • Expert list
Phenotypes
  • 46XY sex reversal 2, dosage-sensitive, 300018
  • Adrenal hypoplasia, congenital, 300200