Content Comparison

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1. DEVELOPMENTAL DELAY.

   1. PMID: 35224839 - associates asserts that LOF variants are associated w / developmental delay, but only describe missense variant. Describes p.Leu137Phe missense variant in 1 child, de novo, with mild to moderate developmental delay. Overexpressed variant in HEK293 cells, observed variant displayed no catalytic activity. Gene is not missense constrained, has a moderate LOEUF score of 0.78. At most 1.1 point (adding functional 0.5, de novo 0.5, missense common disease 0.1 points). Another variant c.421A>G (p.Thr141Ala) de novo in patient with possible developmental delay. Not scoring this because the phenotype is vague/unclear.

   2. PubMed: 33057194 - c.284G>A p.R95Q de novo in patient 20399, but multiple de novo variants found, see supplemental table 1

   3. PMID: 35982159 0 supplemental data 3; same patient as 33057194

2. Agenesis of corpus callosum and ventriculomegaly (fetal imaging) -

   1. PMID: 36307859 and 36307859 (overlapping authors, likely same fetus). In Supplement, classified as VUS, described as de novo. Agenesis of the corpous callosum is a feature of Lenz-Majewsky dwarfism (PMID 29341480)

   2. Deletion hg19 arr8q22.1(97 214 184–98 480 468) × 1 in fetus with Macrocephaly, mild VM, dysplastic CC, signs of MCD, overgrowth. Deletion impacts at least 7 other genes.

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