Activity
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6 actions
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| DDG2P v6.140 | DHPS | Achchuthan Shanmugasundram Mode of pathogenicity for gene: DHPS was changed from Other to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | DHPS | Achchuthan Shanmugasundram edited their review of gene: DHPS: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for DHPS-related neurodevelopmental disorder of hypusination are strong, biallelic_autosomal and undetermined (PMID:30661771). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02644.; Changed phenotypes to: Neurodevelopmental Disorder of Hypusination, DHPS-related neurodevelopmental disorder of hypusination, OMIM:618480.0, MONDO:0032775 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | DHPS | Achchuthan Shanmugasundram reviewed gene: DHPS: Rating: GREEN; Mode of pathogenicity: Other; Publications: 30661771; Phenotypes: Neurodevelopmental Disorder of Hypusination; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | DHPS |
Achchuthan Shanmugasundram Source Expert Review Green was added to DHPS. Mode of pathogenicity for gene DHPS was changed from Other - please provide details in the comments to Other Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v1.38 | DHPS | Rebecca Foulger reviewed gene: DHPS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.37 | DHPS |
Rebecca Foulger gene: DHPS was added gene: DHPS was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: DHPS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DHPS were set to 30661771 Phenotypes for gene: DHPS were set to Neurodevelopmental Disorder of Hypusination Mode of pathogenicity for gene: DHPS was set to Other - please provide details in the comments |
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