1. Panels
  2. Severe microcephaly
  3. LHX2
Genes in panel
Prev Next
STRs in panel
Prev Next

Severe microcephaly

Gene: LHX2

Amber List (moderate evidence)
LHX2 (LIM homeobox 2)
EnsemblGeneIds (GRCh38): ENSG00000106689
EnsemblGeneIds (GRCh37): ENSG00000106689
OMIM: 603759, Gene2Phenotype
LHX2 is in 4 panels

1 review

Sarah Leigh (Genomics England Curator)

I don't know

Not associated with a phenotype in OMIM, Gen2Phen or MONDO. PMID: 37057675 reports 17 predominantly de novo LHX2 variants in a panel of patients with a variable neurodevelopmental disorder. Haploinsufficiency and functional studies are supportive of a loss-of-function pathogenic action of the reported LHX2 variants.
Seven out of the ten cases reported in table 1 (PMID: 37057675) are listed as having microcephaly, however, due to lack of clinical information, these cases cannot be classified as severe (personal communication with the author, Christiane Zweier).
Sources: Literature
Created: 9 May 2023, 1:59 p.m. | Last Modified: 16 May 2023, 5:47 p.m.
Panel Version: 4.11

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
neurodevelopmental disorder

Publications

Created: 9 May 2023, 1:59 p.m.
Last Modified: 16 May 2023, 5:47 p.m.
Copied from panel: Intellectual disability - microarray and sequencing v5.124

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • neurodevelopmental disorder
Tags
gene-checked
OMIM
603759
Clinvar variants
Variants in LHX2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

2 Oct 2024, Gel status: 2

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag gene-checked tag was added to gene: LHX2.

16 May 2023, Gel status: 2

Removed Tag

Sarah Leigh (Genomics England Curator)

Tag Q2_23_promote_green was removed from gene: LHX2.

16 May 2023, Gel status: 2

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

Sarah Leigh (Genomics England Curator)

gene: LHX2 was added gene: LHX2 was added to Severe microcephaly. Sources: Literature,Expert Review Amber Q2_23_promote_green tags were added to gene: LHX2. Mode of inheritance for gene: LHX2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: LHX2 were set to 37057675 Phenotypes for gene: LHX2 were set to neurodevelopmental disorder