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DDG2P

Gene: LHX2

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

1 review

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

The DDG2P confidence category for the disease LHX2-related neurodevelopmental disorder with or without microcephaly is moderate. The allelic requirement and mutation consequence are monoallelic_autosomal and absent gene product;altered gene product structure (PMID: 37057675).
Created: 26 Sep 2024, 8:30 p.m. | Last Modified: 26 Sep 2024, 8:30 p.m.
Panel Version: 4.10

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

Phenotypes
LHX2-related neurodevelopmental disorder with or without microcephaly

Publications

Created: 26 Sep 2024, 8:30 p.m.
Last Modified: 26 Sep 2024, 8:30 p.m.
Panel version: 4.10

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • LHX2-related neurodevelopmental disorder with or without microcephaly
Tags
de novo gene-checked
OMIM
603759
Clinvar variants
Variants in LHX2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

13 Feb 2026, Gel status: 3

Added Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag de novo tag was added to gene: LHX2.

2 Oct 2024, Gel status: 3

Added Tag

Arina Puzriakova (Genomics England Curator)

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

26 Sep 2024, Gel status: 3

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

Achchuthan Shanmugasundram (Genomics England Curator)

gene: LHX2 was added gene: LHX2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype 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 LHX2-related neurodevelopmental disorder with or without microcephaly