1. Panels
  2. Congenital hypothyroidism
  3. LHX3
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Congenital hypothyroidism

Gene: LHX3

Green List (high evidence)
LHX3 (LIM homeobox 3)
EnsemblGeneIds (GRCh38): ENSG00000107187
EnsemblGeneIds (GRCh37): ENSG00000107187
OMIM: 600577, Gene2Phenotype
LHX3 is in 14 panels

0 reviews

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Genomics England PanelApp
  • Expert Review Green
Phenotypes
  • Pituitary hormone deficiency, combined, 3, 221750
  • sensorineural deafness
  • GH, TSH, LH, FSH, PRL deficiency
  • limited neck rotation
  • short cervical spine
  • anterior pituitary may be normal, hypoplastic or enlarged
Tags
treatable
OMIM
600577
Clinvar variants
Variants in LHX3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

26 Sep 2022, Gel status: 3

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag treatable tag was added to gene: LHX3.

3 Feb 2021, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: LHX3 was added gene: LHX3 was added to Congenital hypothyroidism. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: LHX3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LHX3 were set to 18407919; 10835633; 26416826 (2015 review); 21249393 Phenotypes for gene: LHX3 were set to Pituitary hormone deficiency, combined, 3, 221750; sensorineural deafness; GH, TSH, LH, FSH, PRL deficiency; limited neck rotation; short cervical spine; anterior pituitary may be normal, hypoplastic or enlarged