Table 4 Variants identified in the proband by whole-exome sequencing
patient | Gene | Variant | Pathogenicity prediction | GnomAD | 1000G | OMIM clinical phenotype | American College of Medical Genetics classification |
|---|---|---|---|---|---|---|---|
Proband I | CNKSR2 | NM_014927.5: c.1658-3_1676del | MutationTaster: D* Polyphen-2: - SIFT: - CADD: - GERP: - | - | - | XL, Intellectual developmental disorder, X-linked syndromic, Houge type. | Pathogenic (PVS1, PM2, PP3) |
Proband II | CNKSR2 | NM_014927.5: c.1102G > T, p.Gly368* | MutationTaster: D* Polyphen-2: - SIFT: - CADD: 39 GERP: C | - | - | Pathogenic (PVS1, PS2, PM2, PP3) |