Hypogonadotropic hypogonadism
Gene: LHB

LHB (luteinizing hormone beta polypeptide)
EnsemblGeneIds (GRCh38): ENSG00000104826
EnsemblGeneIds (GRCh37): ENSG00000104826
OMIM: 152780, Gene2Phenotype
LHB is in 2 panels

3 reviews

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with phenotype in OMIM, not in G2P. Found in 1/4 sources. At least six variants reported as homozygotes or compound heterozygotes. Two reviewers recommend Green
Created: 13 Oct 2016, 8:41 a.m.

Created: 26 May 2016, 12:15 p.m.

Panel version: 0.31

Mehul Dattani (UCL Institute of Child Health)

Green List (high evidence)

Created: 24 May 2016, 12:18 p.m.

Panel version: 0.2

Louise IZATT (GSTT Clinical Genetics Service)

Green List (high evidence)

Created: 21 May 2016, 1:19 p.m.

Panel version: 0.2

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Radboud University Medical Center, Nijmegen
OMIM

Phenotypes

Hypogonadotropic hypogonadism 23 with or without anosmia, 228300

OMIM

152780

Clinvar variants

Variants in LHB

Penetrance

Complete

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.

26 May 2016, Gel status: 4