Fig. 1: Summary of craniosynostosis (CRS) cases and outcomes. | Genetics in Medicine

Fig. 1: Summary of craniosynostosis (CRS) cases and outcomes.

From: Evaluating the performance of a clinical genome sequencing program for diagnosis of rare genetic disease, seen through the lens of craniosynostosis

Fig. 1

One hundred twenty-seven cases with CRS were identified from the Clinical Variant Ark search, reduced to 114 after exclusion of participants recruited to the 100kGP Pilot project, and participants with no definite CRS-related phenotype terms. Potentially diagnostic variants have been identified in 36 cases thus far. Seventy-eight remaining cases have either been closed with no primary findings (n = 75) or are awaiting Genomic Medicine Centre (GMC) review (n = 3).

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