Hypogonadotropic hypogonadismGene: LHX3
Comment on publications: Hypogonadotrophic features reported in 2/3 LHX3 variant homozygous siblings with hypopituitarism and sensorineural hearing loss. Reduced levels of GH, TSH, PRL, LH and FSH widely reported
Created: 31 Oct 2016, 10:34 a.m.
Comment when marking as ready: Associated with phenotype (221750) in OMIM and G2P, but this does not overlap with IHH. Found in 2/4 sources for OMIM 221750 . One reviewer recommends Green, but can find no other evidence in support of this
Created: 14 Oct 2016, 10:14 a.m.
Associated with hypogonadotrophic hypogonadism as well as combined pituitary hormone deficiencies.
Created: 24 May 2016, 12:18 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Pituitary hormone deficiency, combined, 3 221750
Publications for LHX3 were set to 18407919
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.
Phenotypes for LHX3 were set to Pituitary hormone deficiency, combined, 3 221750
This gene has been classified as Red List (Low Evidence).
This gene has been classified as Amber List (Moderate Evidence).
LHX3 was added to Idiopathic hypogonadotropic hypogonadismpanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen
LHX3All sources for gene: LHX3 were removed
This proposed gene was validated and added to this panel
LHX3 was added to Idiopathic hypogonadotropic hypogonadismpanel. Sources:
LHX3 was created by mdattani