STRs in panel
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Monogenic short stature

Gene: LHX3

Red List (low evidence)

LHX3 (LIM homeobox 3)
EnsemblGeneIds (GRCh38): ENSG00000107187
EnsemblGeneIds (GRCh37): ENSG00000107187
OMIM: 600577, Gene2Phenotype
LHX3 is in 10 panels

1 review

Rebecca Foulger (Genomics England curator)

I don't know

Following discussion with members of the Endocrine Specialist Group at the Webex call on 23.05.19, it was agreed that this gene was outside the scope of this clinical indication. Therefore demoted gene from Green to Red.
Created: 30 May 2019, 9:49 a.m.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • GH, TSH, LH, FSH, PRL deficiencies
OMIM
600577
Clinvar variants
Variants in LHX3
Penetrance
None
Panels with this gene

History Filter Activity

26 Mar 2024, Gel status: 1

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

Arina Puzriakova (Genomics England Curator)

gene: LHX3 was added gene: LHX3 was added to Monogenic short stature. Sources: Expert Review Red Mode of inheritance for gene: LHX3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: LHX3 were set to GH, TSH, LH, FSH, PRL deficiencies