Hypogonadotropic hypogonadism
Gene: LHX4Comment on list classification: based on reviewer comments and finding in Pituitary hormone deficiency, combined, 4Created: 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.
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
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.
This gene has been classified as Green List (High Evidence).
This gene has been classified as Amber List (Moderate Evidence).
Phenotypes for LHX4 were set to Pituitary hormone deficiency, combined, 4, 262700
Publications for LHX4 were set to Takagi, M. ESPE Abstracts (2015) 84 P-1-120, Hormone Research in Paediatrics Volume 82 Supplement 1
Phenotypes for gene LHX4 were set to Pituitary hormone deficiency, combined, 4, 262700
LHX4 was added to Idiopathic hypogonadotropic hypogonadismpanel. Sources: Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services
LHX4All sources for gene: LHX4 were removed
Phenotypes for gene LHX4 were set to Pituitary hormone deficiency, combined, 4, 262700
Phenotypes for gene LHX4 were set to LHX4-related combined pituitary hormone deficiency, 290135
Phenotypes for gene LHX4 were set to LHX4-related combined pituitary hormone deficiency, 290135
Phenotypes for gene LHX4 were set to LHX4-related combined pituitary hormone deficiency, 290135
Phenotypes for gene LHX4 were set to LHX4-related combined pituitary hormone deficiency, 290135
Phenotypes for gene LHX4 were set to LHX4-related combined pituitary hormone deficiency, 290135
This proposed gene was validated and added to this panel
LHX4 was added to Idiopathic hypogonadotropic hypogonadismpanel. Sources:
LHX4 was created by mdattani