Differences of Sex Development
Gene: NR0B1

NR0B1 (nuclear receptor subfamily 0 group B member 1)
EnsemblGeneIds (GRCh38): ENSG00000169297
EnsemblGeneIds (GRCh37): ENSG00000169297
OMIM: 300473, Gene2Phenotype
NR0B1 is in 8 panels

2 reviews

Tashunka Taylor-Miller (Victorian Clinical Genetics Services)

I don't know

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 variant
Created: 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

PMID: 28295047

Created: 30 Jan 2025, 12:08 a.m.
Last Modified: 30 Jan 2025, 12:08 a.m.
Panel version: 1.2

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

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

7951319

Created: 19 Jul 2020, 10:37 p.m.
Last Modified: 19 Jul 2020, 10:37 p.m.
Panel version: 0.163

Details

Mode of Inheritance

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

OMIM

300473

Clinvar variants

Variants in NR0B1

Penetrance

None

Publications

Panels with this gene