Differences of Sex Development
Gene: NR0B1
Gene included three international DSD studies - see PMID: 28295047 supplemental article Fig 1
patient 1, 46XY with micropenis, small testes, adrenal insufficiency hemizygous NR0B1 c.871T>G p.Trp291Gly LP variantCreated: 30 Jan 2025, 12:08 a.m. | Last Modified: 30 Jan 2025, 12:08 a.m.
Panel Version: 1.2
Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
http://purl.obolibrary.org/obo/MONDO_0020040
Publications
Note large duplications only reported.Created: 19 Jul 2020, 10:37 p.m. | Last Modified: 19 Jul 2020, 10:37 p.m.
Panel Version: 0.163
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
46XY sex reversal 2, dosage-sensitive, MIM# 300018
Publications
Publications for gene: NR0B1 were set to 7951319
Gene: nr0b1 has been classified as Amber List (Moderate Evidence).
Phenotypes for gene: NR0B1 were changed from to 46XY sex reversal 2, dosage-sensitive, MIM# 300018
Publications for gene: NR0B1 were set to
Mode of inheritance for gene: NR0B1 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Gene: nr0b1 has been classified as Amber List (Moderate Evidence).
Tag SV/CNV tag was added to gene: NR0B1.
gene: NR0B1 was added gene: NR0B1 was added to Disorders of Sex Differentiation_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: NR0B1 was set to Unknown