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Hypogonadotropic hypogonadism

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

1 review

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with phenotype in OMIM, not in G2P. Found in 3/4 sources. No reviewer comments. Numerous reports of LOF variants in the literature.
Created: 27 May 2016, 12:19 p.m.
Created: 27 May 2016, 12:19 p.m.

Panel version: 0.52

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Literature
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
  • UKGTN
  • OMIM
Phenotypes
  • Adrenal hypoplasia, congenital, with hypogonadotropic hypogonadism 300200
OMIM
300473
Clinvar variants
Variants in NR0B1
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

28 Oct 2016, Gel status: 4

panel promoted to version 1

Ellen McDonagh (Genomics England Curator)

28th Oct 2016: This panel was revised after external expert review and internal discussion. For several genes that have been shown to contribute to the disorder in a digenic/polygenic manner, the decision was made to only include genes as green if biallelic variants had been reported independently from other genes. Genes with a monoallelic mechanism, that have been shown in some studies in conjunction with variants in other genes, were made red as monoallelic variants in these genes may not provide a complete diagnosis.

2 Jun 2016, Gel status: 4

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene NR0B1 were set to Adrenal hypoplasia, congenital, with hypogonadotropic hypogonadism 300200

2 Jun 2016, Gel status: 4

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene NR0B1 were set to Adrenal hypoplasia, congenital, with hypogonadotropic hypogonadism 300200

27 May 2016, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

27 May 2016, Gel status: 3

Upload gene information

Sarah Leigh (Genomics England Curator)

NR0B1 was added to Idiopathic hypogonadotropic hypogonadismpanel. Sources: Literature

26 May 2016, Gel status: 3

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene NR0B1 were set to Adrenal hypoplasia, congenital, with hypogonadotropic hypogonadism, 300200; Endocrine Disorders including conditions such as hypogonadotropic hypogonadism (with or without anosmia): Sequencing Panel (Emory); 46XY sex reversal 2,dosage sensitive,300018

17 May 2016, Gel status: 3

Added New Source

Sarah Leigh (Genomics England Curator)

NR0B1 was added to Idiopathic hypogonadotropic hypogonadismpanel. Source: Radboud University Medical Center, Nijmegen

17 May 2016, Gel status: 2

Added New Source

Sarah Leigh (Genomics England Curator)

NR0B1 was added to Idiopathic hypogonadotropic hypogonadismpanel. Source: Emory Genetics Laboratory

17 May 2016, Gel status: 1

Added New Source

Sarah Leigh (Genomics England Curator)

NR0B1 was added to Idiopathic hypogonadotropic hypogonadismpanel. Source: UKGTN

17 May 2016, Gel status: 0

Created

Sarah Leigh (Genomics England Curator)

NR0B1 was created by sleigh

17 May 2016, Gel status: 0

Added New Source

Sarah Leigh (Genomics England Curator)

NR0B1 was added to Idiopathic hypogonadotropic hypogonadismpanel. Sources: OMIM