Hypogonadotropic hypogonadism
Gene: LHX4

LHX4 (LIM homeobox 4)
EnsemblGeneIds (GRCh38): ENSG00000121454
EnsemblGeneIds (GRCh37): ENSG00000121454
OMIM: 602146, Gene2Phenotype
LHX4 is in 9 panels

3 reviews

Sarah Leigh (Genomics England Curator)

Comment on list classification: based on reviewer comments and finding in Pituitary hormone deficiency, combined, 4
Created: 13 Oct 2016, 2:47 p.m.

Comment when marking as ready: Associated with Pituitary hormone deficiency, combined, 4 262700 in OMIM and G2P. This overlaps with IHH in respect of reduced gonadotrophin levels. Found in 2/4 sources for 262700. Two reviewers recommend Green. At least pathogenic variant identified.
Created: 13 Oct 2016, 2:46 p.m.

Created: 2 Jun 2016, 11:25 a.m.

Panel version: 0.112

Richard Quinton (Newcastle University)

Green List (high evidence)

Created: 24 May 2016, 1:06 p.m.

Panel version: 0.2

Mehul Dattani (UCL Institute of Child Health)

Green List (high evidence)

Associated with hypogonadotrophic hypogonadism as well as combined pituitary hormone deficiencies.
Created: 24 May 2016, 12:18 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
LHX4-related combined pituitary hormone deficiency, 290135

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

Panel version: 0.2

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Green
Illumina TruGenome Clinical Sequencing Services
Radboud University Medical Center, Nijmegen

Phenotypes

Pituitary hormone deficiency, combined, 4, 262700

OMIM

602146

Clinvar variants

Variants in LHX4

Penetrance

Complete

Publications

Takagi, M. ESPE Abstracts (2015) 84 P-1-120, Hormone Research in Paediatrics Volume 82 Supplement 1

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.

13 Oct 2016, Gel status: 4