Differences of Sex Development

Gene: NR0B1

Amber List (moderate evidence)

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

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

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

History Filter Activity

30 Jan 2025, Gel status: 2

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: NR0B1 were set to 7951319

19 Jul 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: nr0b1 has been classified as Amber List (Moderate Evidence).

19 Jul 2020, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: NR0B1 were changed from to 46XY sex reversal 2, dosage-sensitive, MIM# 300018

19 Jul 2020, Gel status: 2

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: NR0B1 were set to

19 Jul 2020, Gel status: 2

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: NR0B1 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females

19 Jul 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: nr0b1 has been classified as Amber List (Moderate Evidence).

19 Jul 2020, Gel status: 3

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag SV/CNV tag was added to gene: NR0B1.

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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