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| Mendeliome v2.290 | LGALS3BP | Bryony Thompson Classified gene: LGALS3BP as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v2.290 | LGALS3BP | Bryony Thompson Gene: lgals3bp has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v2.289 | LGALS3BP |
Bryony Thompson gene: LGALS3BP was added gene: LGALS3BP was added to Mendeliome. Sources: Literature Mode of inheritance for gene: LGALS3BP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: LGALS3BP were set to 37205765; 34728600 Phenotypes for gene: LGALS3BP were set to Neurodevelopmental disorder, MONDO:0700092 Review for gene: LGALS3BP was set to AMBER Added comment: PMID 34728600 reports 3 individuals from 3 families with de novo heterozygous missense LGALS3BP variants presenting with cortical malformations (periventricular heterotopia, microcephaly, abnormal gyrification), developmental delay and seizures; functional studies in CRISPR‑edited organoids and mouse models demonstrate loss‑of‑function rescued by wild‑type LGALS3BP. PMID 37205765 describes cerebral organoids from a carrier of E370K reported in a previous family from PMID 34728600. This variant is present in 28 hets in gnomAD v4, which is more common than expected for an AD condition. Sources: Literature |
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