Fig. 2: A summary of the outcome for participants of the CHD cohorts of 100kGP and images of participants with pathogenic or likely pathogenic variants identified by our GDP. | European Journal of Human Genetics

Fig. 2: A summary of the outcome for participants of the CHD cohorts of 100kGP and images of participants with pathogenic or likely pathogenic variants identified by our GDP.

From: Molecular diagnoses and candidate gene identification in the congenital heart disease cohorts of the 100,000 genomes project

Fig. 2

a Pie-charts quantifying the number of participants within our syndromic and familial CHD cohorts, as well as the combined cohorts, classified by GEL as “solved” (blue), “partially solved or unknown” (orange), “unsolved” (grey) or “report not available” (yellow). b Facial photographs of participant #9 at age 1 year 7 months, showing down-turned mouth and widely spaced teeth. c Facial photographs of participant #9 at age 8 years, showing happy demeanour, wide mouth, wide nasal bridge and widely-spaced teeth. d Photographs of participant #5 at age 7 years showing a broad forehead, brachycephaly, deep set eyes and broad nasal bridge. Hand and foot images show brachydactyly, 5th finger clinodactyly and tapering fingers. e IGV screenshot showing de novo deletion identified in Participant #9. The proband’s aligned WGS reads from .VCF file are compared to those of both parents. The deletion is shown to affect part of exon 6 of UBE3A.

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