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Newborns main panel

Gene: LHX4

Amber List (moderate evidence)
LHX4 (LIM homeobox 4)
EnsemblGeneIds (GRCh38): ENSG00000121454
EnsemblGeneIds (GRCh37): ENSG00000121454
OMIM: 602146, Gene2Phenotype
LHX4 is in 9 panels

1 review

Mafalda Gomes (Genomics England Curator)

The mechanism of pathogenicity is loss-of-function (LOF).
Created: 1 Jun 2023, 2:40 p.m. | Last Modified: 1 Jun 2023, 2:40 p.m.
Panel Version: 0.137
PMID: 18073311 (3 families), 11567216 (1 family), PMID: 17527005 (1 pt), PMID: 27820671 (6 patients)
Created: 1 Jun 2023, 12:22 p.m. | Last Modified: 1 Jun 2023, 12:22 p.m.
Panel Version: 0.134
Created: 1 Jun 2023, 12:22 p.m.
Last Modified: 1 Jun 2023, 12:22 p.m.
Panel version: 0.137

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
Phenotypes
  • Pituitary hormone deficiency, combined, 4
OMIM
602146
Clinvar variants
Variants in LHX4
Penetrance
None
Panels with this gene

History Filter Activity

14 Sep 2023, Gel status: 2

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Amber was added to LHX4. Added phenotypes Pituitary hormone deficiency, combined, 4 for gene: LHX4 Rating Changed from Green List (high evidence) to Amber List (moderate evidence)

5 Jul 2023, Gel status: 3

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Green was added to LHX4. Added phenotypes Pituitary hormone deficiency, combined, 4 for gene: LHX4 Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

31 May 2023, Gel status: 2

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Amber was added to LHX4. Added phenotypes Pituitary hormone deficiency, combined, 4 for gene: LHX4 Rating Changed from No List (delete) to Amber List (moderate evidence)

9 Mar 2023, Gel status: 0

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Pituitary hormone deficiency, combined, 4 for gene: LHX4

9 Mar 2023, Gel status: 0

Created, Added New Source, Set mode of inheritance

Mafalda Gomes (Genomics England Curator)

gene: LHX4 was added gene: LHX4 was added to Newborns main panel. Sources: Expert Review Removed Mode of inheritance for gene: LHX4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown