Skip to main content
Fig. 3 | Genome Medicine

Fig. 3

From: De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith–Magenis syndrome

Fig. 3

Schematic representation of 22q13.2 CNVs involving TCF20 identified in this study and DECIPHER. Deletion intervals in the patients are indicated in red, whereas duplications are indicated in green. The four subjects that are clinically characterized in this study are shown on the top of the figure. Subjects #29, #31, and #32 have larger deletions encompassing multiple flanking genes not currently associated with disease. Subject 30 has a deletion encompassing solely TCF20. Anonymized subjects with CNVs affecting TCF20 that are detected by exon-targeted CMA from the Baylor database are shown in the middle. Cases from DECIPHER with a CNV encompassing TCF20 are shown in the bottom of the figure. Genes with a pLI score > 0.9 that are located within any of the deletions shown in this figure are highlighted by blue vertical segments. ZC3H7B, XRCC6, SREBF2, and TCF20 have pLI scores > 0.99. SCUBE1 and SULT4A1 have pLI scores > 0.95

Back to article page

Genome Medicine

ISSN: 1756-994X

Contact us