Activity
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4 actions
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| DDG2P v6.316 | RALA | Achchuthan Shanmugasundram Mode of pathogenicity for gene: RALA was changed from Other to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | RALA | Achchuthan Shanmugasundram edited their review of gene: RALA: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for RALA-related neurodevelopmental syndrome are strong, monoallelic_autosomal and undetermined (PMID:30500825). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02934.; Changed phenotypes to: OMIM:619311.0, MONDO:0859142, RALA-related Neurodevelopmental Syndrome, RALA-related neurodevelopmental syndrome | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | RALA | Achchuthan Shanmugasundram reviewed gene: RALA: Rating: GREEN; Mode of pathogenicity: Other; Publications: 30500825; Phenotypes: RALA-related Neurodevelopmental Syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | RALA |
Achchuthan Shanmugasundram gene: RALA was added gene: RALA was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: RALA was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: RALA were set to 30500825 Phenotypes for gene: RALA were set to RALA-related Neurodevelopmental Syndrome Mode of pathogenicity for gene: RALA was set to Other |
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