1. Panels
  2. Hypogonadotropic hypogonadism (GMS)
  3. NR0B1
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Hypogonadotropic hypogonadism (GMS)

Gene: NR0B1

Red List (low 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

Simon Thomas (Wessex Regional Genetics Laboratory)

Red List (low evidence)

Created: 22 Mar 2019, 5:03 p.m.

Panel version: 0.7

Martina Owens (Exeter Genetics Laboratory, Royal Devon and Exeter NHS Foundation Trust)

Red List (low evidence)

Created: 15 Mar 2019, 11:15 a.m.

Panel version: 0.5

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Wessex and West Midlands GLH
  • Expert Review Red
  • NHS GMS
  • South West GLH
Phenotypes
  • 46XY sex reversal type 2 (OMIM 300018)
OMIM
300473
Clinvar variants
Variants in NR0B1
Penetrance
None
Panels with this gene

History Filter Activity

22 Mar 2019, Gel status: 1

Added New Source

Ivone Leong (Genomics England Curator)

Source Wessex and West Midlands GLH was added to NR0B1.

15 Mar 2019, Gel status: 1

Set Phenotypes

Ivone Leong (Genomics England Curator)

Added phenotypes 46XY sex reversal type 2 (OMIM 300018) for gene: NR0B1

15 Mar 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Ivone Leong (Genomics England Curator)

gene: NR0B1 was added gene: NR0B1 was added to Hypogonadotropic hypogonadism idiopathic. Sources: South West GLH,NHS GMS,Expert Review Red Mode of inheritance for gene: NR0B1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females