Differences of Sex Development
Gene: LHX3EnsemblGeneIds (GRCh38): ENSG00000107187
EnsemblGeneIds (GRCh37): ENSG00000107187
OMIM: 600577, Gene2Phenotype
LHX3 is in 14 panels
1 review
Crystle Lee (Victorian Clinical Genetics Services)
Hypogonadism (LH/FSH deficinecy) is a feature of the associated phenotype.
PMID: 28302169: 3 siblings from 2 families reported. Micropenis reported in 2 male siblings. All three patients were gonadotropin deficient.
PMID: 17327381: 4 families reported with combined pituitary hormone deficiencies
PMID: 30262920: Reported 3 different het variants in 3 patients (2 males presented with micropenis) however 1 of the variants is present in gnomad (117 hets and 1 hom)Created: 15 Jul 2020, 1:20 a.m. | Last Modified: 15 Jul 2020, 1:20 a.m.
Panel Version: 0.72
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Pituitary hormone deficiency, combined, 3 (MIM#221750)
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Victorian Clinical Genetics Services
- Phenotypes
-
- Pituitary hormone deficiency, combined, 3 (MIM#221750)
- Tags
- OMIM
- 600577
- Clinvar variants
- Variants in LHX3
- Penetrance
- None
- Publications
- Panels with this gene
-
- Deafness_IsolatedAndComplex
- Congenital hypothyroidism
- Mackenzie's Mission_Reproductive Carrier Screening
- Fetal anomalies
- Additional findings_Paediatric
- Prepair 1000+
- Mendeliome
- BabyScreen+ newborn screening
- Prepair 500+
- Pituitary hormone deficiency
- Intellectual disability syndromic and non-syndromic
- Callosome
- Differences of Sex Development
- Growth failure
History Filter Activity
Added Tag
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Tag treatable tag was added to gene: LHX3.
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: lhx3 has been classified as Green List (High Evidence).
Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Mode of inheritance for gene: LHX3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: LHX3 were changed from to Pituitary hormone deficiency, combined, 3 (MIM#221750)
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: LHX3 were set to
Created, Added New Source, Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: LHX3 was added gene: LHX3 was added to Disorders of Sex Differentiation_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: LHX3 was set to Unknown