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Segmental overgrowth disorders - Deep sequencing v3.8 PIK3R1 Arina Puzriakova Added comment: Comment on list classification: New gene added by Tom Cullup (GOSH). There is sufficient evidence to promote this gene to green at the next GMS panel update. At least 17 cases have been identified with somatic mosaic variants in PIK3R1 (PMIDs: 34040190; 35964931). Affected individuals exhibit various vascular lesions and overgrowth which were comparable to features of the PIK3CA-related overgrowth spectrum.
Segmental overgrowth disorders - Deep sequencing PIK3CA Rebecca Foulger marked PIK3CA as ready
Segmental overgrowth disorders - Deep sequencing PIK3CA Rebecca Foulger edited their review of PIK3CA
Segmental overgrowth disorders - Deep sequencing PIK3CA Richard Scott reviewed PIK3CA
Segmental overgrowth disorders - Deep sequencing PIK3CA Rebecca Foulger classified PIK3CA as green
Segmental overgrowth disorders - Deep sequencing PIK3CA Rebecca Foulger reviewed PIK3CA