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Optic neuropathy

Gene: LHX2

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

2 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

The rating of this gene has been updated to green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown following NHS Genomic Medicine Service approval.
Created: 6 Dec 2024, 12:04 p.m. | Last Modified: 6 Dec 2024, 12:04 p.m.
Panel Version: 4.40

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

Created: 6 Dec 2024, 12:04 p.m.
Last Modified: 6 Dec 2024, 12:04 p.m.
Panel version: 4.40

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.
Created: 1 Aug 2023, 10:23 a.m. | Last Modified: 1 Aug 2023, 10:23 a.m.
Panel Version: 4.7
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.
Nine out of the thirteen cases reported in table 1 (PMID: 37057675) are listed as having Ophthalmologic abnormalities including macular degeneration, optic neuropathy, and esotropia.
Sources: Literature
Created: 9 May 2023, 1:59 p.m. | Last Modified: 1 Aug 2023, 10:22 a.m.
Panel Version: 4.6

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

Phenotypes
neurodevelopmental disorder

Publications

Created: 9 May 2023, 1:59 p.m.
Last Modified: 1 Aug 2023, 10:22 a.m.
Copied from panel: Severe microcephaly v4.28, Intellectual disability - microarray and sequencing v5.124

Details

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

History Filter Activity

6 Dec 2024, Gel status: 3

Removed Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag Q3_23_promote_green was removed from gene: LHX2.

6 Dec 2024, Gel status: 3

Added New Source, Added New Source, Status Update

Achchuthan Shanmugasundram (Genomics England Curator)

Source NHS GMS was added to LHX2. Source Expert Review Green was added to LHX2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

2 Oct 2024, Gel status: 2

Added Tag

Arina Puzriakova (Genomics England Curator)

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

1 Aug 2023, Gel status: 2

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: lhx2 has been classified as Amber List (Moderate Evidence).

1 Aug 2023, Gel status: 2

Added Tag

Sarah Leigh (Genomics England Curator)

Tag Q3_23_promote_green tag was added to gene: LHX2.

1 Aug 2023, Gel status: 2

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

Sarah Leigh (Genomics England Curator)

gene: LHX2 was added gene: LHX2 was added to Optic neuropathy. Sources: Expert Review Amber,Literature 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