Activity
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6 actions
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| DDG2P v6.199 | HMGCS2 | Achchuthan Shanmugasundram Mode of pathogenicity for gene: HMGCS2 was changed from Other to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | HMGCS2 | Achchuthan Shanmugasundram edited their review of gene: HMGCS2: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for HMGCS2-related 3-hydroxy-3-methylglutaryl-CoA synthase 2 deficiency are definitive, biallelic_autosomal and undetermined (PMIDs: 11228257, 11479731, 12647205, 9337379, 9727719). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01325.; Changed publications to: 11479731, 9337379, 11228257, 12647205, 9727719; Changed phenotypes to: OMIM:605911.0, MONDO:0011614, 3-HYDROXY-3-METHYLGLUTARYL-COA SYNTHASE 2 DEFICIENCY, OMIM:605911, HMGCS2-related 3-hydroxy-3-methylglutaryl-CoA synthase 2 deficiency | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | HMGCS2 | Achchuthan Shanmugasundram reviewed gene: HMGCS2: Rating: GREEN; Mode of pathogenicity: Other; Publications: 9337379, 12647205, 11228257, 9727719, 11479731; Phenotypes: 3-HYDROXY-3-METHYLGLUTARYL-COA SYNTHASE 2 DEFICIENCY, OMIM:605911; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | HMGCS2 |
Achchuthan Shanmugasundram Mode of pathogenicity for gene HMGCS2 was changed from Other - please provide details in the comments to Other Publications for gene: HMGCS2 were updated from 11479731; 9727719; 12647205; 11228257; 9337379 to 9337379; 12647205; 11228257; 9727719; 11479731 |
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| DDG2P v0.2 | HMGCS2 | Rebecca Foulger reviewed gene: HMGCS2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | HMGCS2 |
Rebecca Foulger gene: HMGCS2 was added gene: HMGCS2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: HMGCS2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HMGCS2 were set to 11479731; 9727719; 12647205; 11228257; 9337379 Phenotypes for gene: HMGCS2 were set to 3-HYDROXY-3-METHYLGLUTARYL-COA SYNTHASE 2 DEFICIENCY 605911 Mode of pathogenicity for gene: HMGCS2 was set to Other - please provide details in the comments |
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