Pituitary hormone deficiency

Gene: LHX4

Green List (high evidence)

LHX4 (LIM homeobox 4)
EnsemblGeneIds (GRCh38): ENSG00000121454
EnsemblGeneIds (GRCh37): ENSG00000121454
OMIM: 602146, Gene2Phenotype
LHX4 is in 10 panels

1 review

Ivone Leong (Genomics England Curator)

As discussed in the GMS Endocrinology Specialist Test Group webex call 28th Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green.
Created: 29 Jan 2019, noon
LHX4 is confirmed to be associated with combined pituitary hormone deficiency 4 in OMIM and Gene2Phenotype. LHX4 is also a green gene on the Congenital hypothyroidsim panel (Version 1.4). There are >3 reported cases of unrelated patients with combined pituitary hormone deficiency who have variants in LHX4.
Created: 7 Dec 2018, 11:04 a.m.

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
Phenotypes
  • Pituitary hormone deficiency, combined, 4 (262700)
OMIM
602146
Clinvar variants
Variants in LHX4
Penetrance
None
Publications
Panels with this gene

History Filter Activity

30 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Ivone Leong (Genomics England Curator)

Ivone Leong: LHX4 is confirmed to be associ

8 Jan 2019, Gel status: 4

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: lhx4 has been classified as Green List (High Evidence).

7 Dec 2018, Gel status: 4

Set publications

Ivone Leong (Genomics England Curator)

Publications for gene: LHX4 were set to

7 Dec 2018, Gel status: 4

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

Ivone Leong (Genomics England Curator)

gene: LHX4 was added gene: LHX4 was added to Pituitary hormone deficiency. Sources: Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,UKGTN,Illumina TruGenome Clinical Sequencing Services Mode of inheritance for gene: LHX4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: LHX4 were set to Pituitary hormone deficiency, combined, 4 (262700)