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Newborns main panel

Gene: NR0B1

Green List (high evidence)
NR0B1 (nuclear receptor subfamily 0 group B member 1)
EnsemblGeneIds (GRCh38): ENSG00000169297
EnsemblGeneIds (GRCh37): ENSG00000169297
OMIM: 300473, Gene2Phenotype
NR0B1 is in 5 panels

2 reviews

Arina Puzriakova (Genomics England Curator)

Special Consideration: Sex mismatch/DSD - phenotype can include differences of sex development in one or both sexes. This could be the cause of an apparent mismatch between the genotypic sex and the phenotypic sex entered at the point of sample registration.

Additional Information: Affected males may have DSD.
Created: 26 Sep 2024, 3:53 p.m. | Last Modified: 26 Sep 2024, 3:53 p.m.
Panel Version: 0.469
Created: 26 Sep 2024, 3:53 p.m.
Last Modified: 26 Sep 2024, 3:53 p.m.
Panel version: 0.469

Mafalda Gomes (Genomics England Curator)

The mechanism of pathogenicity is loss-of-function (LOF).
Created: 1 Jun 2023, 2:40 p.m. | Last Modified: 1 Jun 2023, 2:40 p.m.
Panel Version: 0.137
DAX-1 (NR0B1) and steroidogenic factor-1 (SF-1, NR5A1) in human disease - PubMed (nih.gov)
Created: 1 Jun 2023, 12:22 p.m. | Last Modified: 1 Jun 2023, 12:22 p.m.
Panel Version: 0.134
NR0B1-related adrenal hypoplasia congenita includes bothX-linkedadrenal hypoplasia congenita (X-linked AHC) and Xp21deletion(previously called complex glycerol kinase deficiency), which includes deletion ofNR0B1(causing X-linked AHC) andGK(causing glycerol kinase deficiency), and in some cases deletion ofDMD(causingDuchenne muscular dystrophy).
Created: 1 Jun 2023, 12:20 p.m. | Last Modified: 1 Jun 2023, 12:20 p.m.
Panel Version: 0.133
MOI reviewed by clinical team. Mafalda Gomes comment: Heterozygous females may very occasionally have manifestations of adrenal insufficiency or hypogonadotropic hypogonadism, potentially caused by skewed X-chromosome inactivation.
Created: 10 Mar 2023, 10:37 a.m. | Last Modified: 10 Mar 2023, 10:37 a.m.
Panel Version: 0.40

Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females

Phenotypes
Adrenal hypoplasia, congenital

Created: 10 Mar 2023, 10:37 a.m.
Last Modified: 10 Mar 2023, 10:37 a.m.
Panel version: 0.137

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
Phenotypes
  • Adrenal hypoplasia, congenital
Tags
special_consideration
OMIM
300473
Clinvar variants
Variants in NR0B1
Penetrance
None
Panels with this gene

History Filter Activity

26 Sep 2024, Gel status: 3

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag special_consideration tag was added to gene: NR0B1.

14 Sep 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Adrenal hypoplasia, congenital for gene: NR0B1

5 Jul 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Adrenal hypoplasia, congenital for gene: NR0B1

31 May 2023, Gel status: 3

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Green was added to NR0B1. Added phenotypes Adrenal hypoplasia, congenital for gene: NR0B1 Rating Changed from No List (delete) to Green List (high evidence)

5 May 2023, Gel status: 0

Added New Source, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Removed was added to NR0B1. Rating Changed from Green List (high evidence) to No List (delete)

9 Mar 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Adrenal hypoplasia, congenital for gene: NR0B1

9 Mar 2023, Gel status: 3

Created, Added New Source, Set mode of inheritance

Mafalda Gomes (Genomics England Curator)

gene: NR0B1 was added gene: NR0B1 was added to Newborns main panel. Sources: Expert Review Green Mode of inheritance for gene: NR0B1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females