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| Mosaic skin disorders - deep sequencing v2.19 | PIK3R1 | Arina Puzriakova Publications for gene: PIK3R1 were set to PMID: 34040190; 35964931 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mosaic skin disorders - deep sequencing v2.18 | PIK3R1 |
Arina Puzriakova Tag Q3_23_promote_green tag was added to gene: PIK3R1. Tag Q3_23_NHS_review tag was added to gene: PIK3R1. |
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| Mosaic skin disorders - deep sequencing v2.18 | PIK3R1 | Arina Puzriakova Classified gene: PIK3R1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mosaic skin disorders - deep sequencing v2.18 | 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. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mosaic skin disorders - deep sequencing v2.18 | PIK3R1 | Arina Puzriakova Gene: pik3r1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mosaic skin disorders - deep sequencing v2.1 | PIK3R1 |
Tom Cullup gene: PIK3R1 was added gene: PIK3R1 was added to Mosaic skin disorders - deep sequencing. Sources: Expert list Mode of inheritance for gene: PIK3R1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PIK3R1 were set to PMID: 34040190; 35964931 Phenotypes for gene: PIK3R1 were set to Vascular malformation and overgrowth Penetrance for gene: PIK3R1 were set to unknown Mode of pathogenicity for gene: PIK3R1 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments Review for gene: PIK3R1 was set to GREEN Added comment: Sources: Expert list |
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