NR0B1

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

6 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 6 panels
Green NR0B1 in Congenital adrenal hypoplasia Level 3: Adrenal disorders Level 2: Endocrine disorders Version 3.11 Latest signed off version: v3.0 (30 Nov 2022)	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 1.41	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 (GMS) Version 3.18 Latest signed off version: v3.0 (22 Mar 2023)	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 4.4 Latest signed off version: v4.0 (22 Mar 2023)	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 3.155 Latest signed off version: v3.0 (22 Mar 2023)	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 1.184	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