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| DDG2P v6.310 | PTPN11 | Achchuthan Shanmugasundram Mode of pathogenicity for gene: PTPN11 was changed from Other to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | PTPN11 | Achchuthan Shanmugasundram edited their review of gene: PTPN11: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for PTPN11-related Noonan syndrome with multiple lentigines are definitive, monoallelic_autosomal and undetermined (PMIDs: 11992261, 12058348, 12161596, 14634749, 14961557, 14991917, 15121796, 15389709, 15520399, 16172598, 16358218, 16377799, 16679933, 16733669, 17697839, 17875892, 17927788, 19054014, 19659470, 19768645, 19864201, 21365175, 21677813, 21747628, 21910226, 22822385, 23799168, 24790373, 24820750, 25884655, 25917897, 26377839, 27484170, 33354767). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00841. The DDG2P confidence category, allelic requirement and molecular mechanism for PTPN11-related Noonan syndrome are definitive, monoallelic_autosomal and gain of function (PMIDs: 11704759, 11992261, 12161469, 12325025, 12357036, 12522798, 12529711, 12872825, 14974085, 15211660, 15240615, 15248152, 15384080, 15521065, 15889278, 15929108, 15956085, 15985475, 16078230, 16188759, 16358218, 16804314, 17052965, 17184563, 17194341, 17339163, 17361219, 17497712, 17515436, 18348260, 19449407, 19760651, 21269411, 21533187, 23312968, 24739123, 25974318, 30681346). The cross-cutting modifier is restricted mutation set. More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03310.; Changed publications to: 12325025, 21677813, 24790373, 14991917, 19054014, 17927788, 12161469, 12529711, 15889278, 16804314, 15985475, 17194341, 16679933, 17361219, 16188759, 15929108, 16358218, 15389709, 17339163, 15248152, 26377839, 24820750, 33354767, 21910226, 11704759, 23312968, 25917897, 19659470, 24739123, 11992261, 22822385, 12357036, 14961557, 12872825, 17184563, 12058348, 12161596, 15240615, 15520399, 14634749, 21365175, 15211660, 15521065, 15956085, 25974318, 17697839, 16733669, 19864201, 18348260, 23799168, 15121796, 19449407, 14974085, 21747628, 16172598, 27484170, 17515436, 21269411, 15384080, 12522798, 16078230, 17052965, 17875892, 19760651, 21533187, 30681346, 25884655, 19768645, 16377799, 17497712; Changed phenotypes to: MONDO:0100082, LEOPARD SYNDROME TYPE 1, OMIM:151100, PTPN11-related Noonan syndrome, PTPN11-related Noonan syndrome with multiple lentigines, OMIM:151100.0, MONDO:0008104, NOONAN SYNDROME 1, OMIM:163950 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PTPN11 | Achchuthan Shanmugasundram reviewed gene: PTPN11: Rating: GREEN; Mode of pathogenicity: Other; Publications: 19659470, 15520399, 21910226, 15384080, 24820750, 16733669, 12325025, 19864201, 22822385, 19768645, 19054014, 11992261, 23799168, 15240615, 27484170, 11704759, 24790373, 26377839, 25884655, 25917897, 17875892, 12529711, 12161469, 21365175, 19449407, 21747628, 21677813, 17927788; Phenotypes: LEOPARD SYNDROME TYPE 1, OMIM:151100, NOONAN SYNDROME 1, OMIM:163950; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | PTPN11 |
Achchuthan Shanmugasundram Mode of pathogenicity for gene PTPN11 was changed from Other - please provide details in the comments to Other Publications for gene: PTPN11 were updated from 12529711; 19449407; 12161469; 15384080; 15240615; 11704759; 12325025; 11992261 to 19659470; 15520399; 21910226; 15384080; 24820750; 16733669; 12325025; 19864201; 22822385; 19768645; 19054014; 11992261; 23799168; 15240615; 27484170; 11704759; 24790373; 26377839; 25884655; 25917897; 17875892; 12529711; 12161469; 21365175; 19449407; 21747628; 21677813; 17927788 |
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| DDG2P v0.2 | PTPN11 | Rebecca Foulger reviewed gene: PTPN11: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | PTPN11 |
Rebecca Foulger Added phenotypes NOONAN SYNDROME 1 163950 for gene: PTPN11 Publications for gene PTPN11 were changed from to 12529711; 19449407; 12161469; 15384080; 15240615; 11704759; 12325025; 11992261 |
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| DDG2P v0.1 | PTPN11 |
Rebecca Foulger gene: PTPN11 was added gene: PTPN11 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PTPN11 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: PTPN11 were set to LEOPARD SYNDROME TYPE 1 151100 Mode of pathogenicity for gene: PTPN11 was set to Other - please provide details in the comments |
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