Activity

Filter

Cancel
Date Panel Item Activity
6 actions
Severe microcephaly v4.11 LHX2 Sarah Leigh Tag Q2_23_promote_green was removed from gene: LHX2.
Severe microcephaly v4.11 LHX2 Sarah Leigh changed review comment from: Not associated with a phenotype in OMIM, Gen2Phen or MONDO. PMID: 37057675 reports 17 predominanly 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.
Sources: Literature; to: 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
Severe microcephaly v4.11 LHX2 Sarah Leigh Deleted their comment
Severe microcephaly v4.11 LHX2 Sarah Leigh edited their review of gene: LHX2: Changed rating: AMBER
Severe microcephaly v4.11 LHX2 Sarah Leigh Entity copied from Intellectual disability - microarray and sequencing v5.124
Severe microcephaly v4.11 LHX2 Sarah Leigh 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