1. Panels
  2. Congenital hypothyroidism
  3. LHX4
STRs in panel
Prev Next
Regions in panel
Prev Next

Congenital hypothyroidism

Gene: LHX4

Green List (high evidence)
LHX4 (LIM homeobox 4)
EnsemblGeneIds (GRCh38): ENSG00000121454
EnsemblGeneIds (GRCh37): ENSG00000121454
OMIM: 602146, Gene2Phenotype
LHX4 is in 7 panels

0 reviews

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Genomics England PanelApp
  • Expert Review Green
Phenotypes
  • anterior pituitary hypoplasia
  • GH, TSH, ACTH, variable gonadotrophin deficiencies
  • etopic posterior pituitary
  • Pituitary hormone deficiency, combined, 4, 262700
  • cerebellar abnormalities
Tags
treatable
OMIM
602146
Clinvar variants
Variants in LHX4
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: LHX4.

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: LHX4 was added gene: LHX4 was added to Congenital hypothyroidism. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: LHX4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: LHX4 were set to 25955177; 26416826 (2015 review); 11567216 Phenotypes for gene: LHX4 were set to anterior pituitary hypoplasia; GH, TSH, ACTH, variable gonadotrophin deficiencies; etopic posterior pituitary; Pituitary hormone deficiency, combined, 4, 262700; cerebellar abnormalities