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| 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 v0.16 | PIK3CA | Tom Cullup reviewed gene: PIK3CA: Rating: GREEN; Mode of pathogenicity: ; Publications: 22499344, 22729224, 29446767, 23100325; Phenotypes: PIK3CA-related overgrowth syndromes (613089, 612918, 615108, 155500), Vascular malformations, Epidermal naevus (162900); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mosaic skin disorders - deep sequencing v0.15 | PIK3CA | Catherine Snow Publications for gene PIK3CA were changed from to 22499344; 22729224; 29446767; 23100325 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mosaic skin disorders - deep sequencing v0.7 | PIK3CA | Rebecca Foulger Source London North GLH was added to PIK3CA. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mosaic skin disorders - deep sequencing v0.4 | PIK3CA | Rebecca Foulger reviewed gene: PIK3CA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mosaic skin disorders - deep sequencing v0.3 | PIK3CA |
Rebecca Foulger gene: PIK3CA was added gene: PIK3CA was added to Mosaic skin disorders - deep sequencing. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: PIK3CA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: PIK3CA were set to PIK3CA-related overgrowth syndromes; Vascular malformations |
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