NR0B1

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

8 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 8 panels
Amber NR0B1 in Differences of Sex Development Level 2: Dysmorphic and congenital abnormality syndromes Version 0.293	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes 46XY sex reversal 2, dosage-sensitive, MIM# 300018 Tags SV/CNV
Green NR0B1 in Mendeliome Version 1.1902	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Adrenal hypoplasia, congenital (MIM# 300200) 46XY sex reversal 2, dosage-sensitive, MIM# 300018 Tags SV/CNV
Green NR0B1 in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 0.109	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Mackenzie's Mission Phenotypes 46XY sex reversal 2, dosage-sensitive, 300018 (3)
Green NR0B1 in Additional findings_Paediatric Level 2: Screening Version 0.278	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BabySeq Category A gene Expert Review Green Phenotypes Congenital adrenal hypoplasia
Amber NR0B1 in Fetal anomalies Version 1.255	review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Amber Genomics England PanelApp Phenotypes 46XY sex reversal 2, dosage-sensitive MIM#300018 Tags SV/CNV
Green NR0B1 in Prepair 1000+ Level 2: Screening Version 1.9	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Mackenzie's Mission Phenotypes 46XY sex reversal 2, dosage-sensitive, 300018 (3)
Green NR0B1 in BabyScreen+ newborn screening Level 2: Screening Version 1.114	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green BabySeq Category A gene Phenotypes Adrenal hypoplasia, congenital (MIM# 300200) Tags treatable endocrine
Green NR0B1 in Prepair 500+ Level 2: Screening Version 1.1	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Mackenzie's Mission Phenotypes 46XY sex reversal 2, dosage-sensitive, 300018 (3)