Hypogonadotropic hypogonadism
Gene: LHX3EnsemblGeneIds (GRCh38): ENSG00000107187
EnsemblGeneIds (GRCh37): ENSG00000107187
OMIM: 600577, Gene2Phenotype
LHX3 is in 10 panels
2 reviews
Sarah Leigh (Genomics England Curator)
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 reportedCreated: 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 thisCreated: 14 Oct 2016, 10:14 a.m.
Mehul Dattani (UCL Institute of Child Health)
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
Phenotypes
Pituitary hormone deficiency, combined, 3 221750
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- Radboud University Medical Center, Nijmegen
- Illumina TruGenome Clinical Sequencing Services
- Phenotypes
-
- Pituitary hormone deficiency, combined, 3 221750
- OMIM
- 600577
- Clinvar variants
- Variants in LHX3
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
Set publications
Sarah Leigh (Genomics England Curator)Publications for LHX3 were set to 18407919
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.
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for LHX3 were set to Pituitary hormone deficiency, combined, 3 221750
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Amber List (Moderate Evidence).
Upload gene information
Sarah Leigh (Genomics England Curator)LHX3 was added to Idiopathic hypogonadotropic hypogonadismpanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen
clearsources
Sarah Leigh (Genomics England Curator)LHX3All sources for gene: LHX3 were removed
Approved Gene
Sarah Leigh (Genomics England Curator)This proposed gene was validated and added to this panel
Added New Source
Mehul Dattani (UCL Institute of Child Health)LHX3 was added to Idiopathic hypogonadotropic hypogonadismpanel. Sources:
Created
Mehul Dattani (UCL Institute of Child Health)LHX3 was created by mdattani