Activity
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9 actions
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| DDG2P v6.48 | ANKRD11 | Achchuthan Shanmugasundram Mode of pathogenicity for gene: ANKRD11 was changed from None to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.47 | ANKRD11 | Achchuthan Shanmugasundram Mode of pathogenicity for gene: ANKRD11 was changed from Other to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | ANKRD11 | Achchuthan Shanmugasundram edited their review of gene: ANKRD11: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for ANKRD11-related KBG syndrome are definitive, monoallelic_autosomal and undetermined (PMIDs: 21782149, 23184435, 23494856, 25424714, 25464108, 25543316, 25652421, 25838844, 26269249, 27667800, 27900361, 28250421, 28449295, 28566769, 28815928, 29224748, 30088855, 30877071, 31566922, 32820523, 33262785, 33354850, 33476899, 33653342, 33955014, 34247373, 34547584, 35394473, 35598261, 35682590, 35833929, 36584991, 36628575, 37665295). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00381.; Changed publications to: 25543316, 31566922, 28250421, 37665295, 29224748, 23184435, 36628575, 34547584, 25652421, 28449295, 25464108, 30088855, 33354850, 33955014, 28815928, 21782149, 25424714, 35682590, 35833929, 25838844, 36584991, 23494856, 33262785, 32820523, 35394473, 34247373, 27667800, 33653342, 30877071, 26269249, 28566769, 33476899, 27900361, 35598261; Changed phenotypes to: OMIM:148050.0, KBG SYNDROME, OMIM:148050, ANKRD11-related KBG syndrome, MONDO:0007846 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v4.10 | ANKRD11 | Achchuthan Shanmugasundram edited their review of gene: ANKRD11: Added comment: The DDG2P mutation consequence for KBG SYNDROME, OMIM:148050 has been updated to decreased gene product level.; Changed mode of pathogenicity: Other; Changed publications to: 35394473, 33262785, 27667800, 33476899, 26269249, 28449295, 37665295, 33653342, 30088855, 35682590, 35833929, 25543316, 28815928, 23494856, 28250421, 31566922, 25838844, 32820523, 25464108, 25652421, 33354850, 36584991, 36628575, 34547584, 33955014, 27900361, 34247373, 30877071, 29224748, 23184435, 35598261, 28566769, 25424714, 21782149 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v4.9 | ANKRD11 | Achchuthan Shanmugasundram Mode of pathogenicity for gene ANKRD11 was changed from to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ANKRD11 | Achchuthan Shanmugasundram reviewed gene: ANKRD11: Rating: GREEN; Mode of pathogenicity: ; Publications: 23494856, 25464108, 30877071, 25838844, 28449295, 23184435, 29224748, 30088855, 25652421, 21782149, 28250421, 27900361, 27667800; Phenotypes: KBG SYNDROME, OMIM:148050; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | ANKRD11 | Achchuthan Shanmugasundram Publications for gene: ANKRD11 were updated from 15523620; 15378538; 21782149 to 23494856; 25464108; 30877071; 15378538; 28449295; 23184435; 29224748; 30088855; 25652421; 21782149; 15523620; 28250421; 27667800; 27900361; 25838844 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | ANKRD11 | Rebecca Foulger reviewed gene: ANKRD11: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | ANKRD11 |
Rebecca Foulger gene: ANKRD11 was added gene: ANKRD11 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: ANKRD11 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: ANKRD11 were set to 15523620; 15378538; 21782149 Phenotypes for gene: ANKRD11 were set to KBG SYNDROME 148050 |
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