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| Vascular Malformations_Germline v0.93 | PIK3R2 | Zornitza Stark Marked gene: PIK3R2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Vascular Malformations_Germline v0.93 | PIK3R2 | Zornitza Stark Gene: pik3r2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Vascular Malformations_Germline v0.34 | PIK3R2 |
Bryony Thompson gene: PIK3R2 was added gene: PIK3R2 was added to Inherited Vascular Malformations. Sources: Expert list Mode of inheritance for gene: PIK3R2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: PIK3R2 were set to 22729224; 28502725 Phenotypes for gene: PIK3R2 were set to Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 603387 Review for gene: PIK3R2 was set to RED Added comment: This condition (MPPH) lacks vascular malformations as a feature of the phenotype. Two variants were identified in the blood of two postnatal cases suspected of having mosaic overgrowth syndromes, but clinical indication for testing was not provided. Sources: Expert list |
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