Severe microcephaly
Gene: LHX2
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: LiteratureCreated: 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
Tag Q2_23_promote_green was removed from gene: LHX2.
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