Activity
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8 actions
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| DDG2P v6.273 | NOVA2 | Achchuthan Shanmugasundram Mode of pathogenicity for gene: NOVA2 was changed from Other to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | NOVA2 | Achchuthan Shanmugasundram edited their review of gene: NOVA2: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for NOVA2-related neurodevelopmental disorder are strong, monoallelic_autosomal and undetermined (PMIDs: 32197073, 35607920). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02446.; Changed phenotypes to: Intellectual disability with ataxia/spasticity, NOVA2-related neurodevelopmental disorder, OMIM:618859.0, MONDO:0030024, NOVA2-associated neurodevelopmental disorder | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v4.10 | NOVA2 | Achchuthan Shanmugasundram edited their review of gene: NOVA2: Added comment: The DDG2P mutation consequence for NOVA2-associated neurodevelopmental disorder has been updated to altered gene product structure.; Changed mode of pathogenicity: Other; Changed publications to: 35607920, 32197073; Changed phenotypes to: Intellectual disability with ataxia/spasticity, NOVA2-associated neurodevelopmental disorder | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v4.9 | NOVA2 | Achchuthan Shanmugasundram Mode of pathogenicity for gene NOVA2 was changed from to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | NOVA2 | Achchuthan Shanmugasundram reviewed gene: NOVA2: Rating: GREEN; Mode of pathogenicity: ; Publications: 32197073; Phenotypes: Intellectual disability with ataxia/spasticity; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | NOVA2 |
Achchuthan Shanmugasundram Source Expert Review Green was added to NOVA2. Publications for gene: NOVA2 were updated from to 32197073 Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v0.2 | NOVA2 | Rebecca Foulger reviewed gene: NOVA2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | NOVA2 |
Rebecca Foulger gene: NOVA2 was added gene: NOVA2 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: NOVA2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: NOVA2 were set to Intellectual disability with ataxia/spasticity |
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