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| Vascular Malformations_Germline v0.93 | PIK3R1 | Zornitza Stark Marked gene: PIK3R1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Vascular Malformations_Germline v0.93 | PIK3R1 | Zornitza Stark Gene: pik3r1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Vascular Malformations_Germline v0.33 | PIK3R1 | Bryony Thompson Tag somatic tag was added to gene: PIK3R1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Vascular Malformations_Germline v0.33 | PIK3R1 |
Bryony Thompson gene: PIK3R1 was added gene: PIK3R1 was added to Inherited Vascular Malformations. Sources: Expert list Mode of inheritance for gene: PIK3R1 was set to Other Publications for gene: PIK3R1 were set to 29174369 Phenotypes for gene: PIK3R1 were set to capillary and lymphatic malformation Review for gene: PIK3R1 was set to RED Added comment: A patient carrying a somatic PIK3R1 (p.K567E) variant demonstrated capillary malformation and lymphatic malformation, with mild, proportional overgrowth of one extremity. No other reports with vascular malformations/anomalies. Germline variants cause various conditions where vascular malformations are not a prominent feature. Sources: Expert list |
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