Table 1 Variant identified in the patient with AMC by WES
Gene | OMIM clinical phenotype | Variant | Allele Frequency | Pathogenicity prediction | American College of Medical Genetics classification |
|---|---|---|---|---|---|
RIPK4 | AR: CHAND syndrome, Popliteal pterygium syndrome, Bartsocas-Papas type 1 | NM_020639.3:exon8:c.1354G > A:p.E452K | Unknown variant | MutationTaster: D SIFT: D Polyphen-2: D | Likely pathogenic (PM1, PM2, PP1, PP3) |
NM_020639.3:exon8:c.1558A > T:p.T520S | Unknown variant | MutationTaster: D SIFT: D Polyphen-2: D | Likely pathogenic (PM1, PM2, PP1, PP3) |