Optic neuropathy
Gene: LHX2
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: LiteratureCreated: 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
Gene: lhx2 has been classified as Amber List (Moderate Evidence).
Tag Q3_23_promote_green tag was added to gene: LHX2.
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