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| DDG2P v6.153 | EIF4A2 | Achchuthan Shanmugasundram Mode of pathogenicity for gene: EIF4A2 was changed from Other to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | EIF4A2 | Achchuthan Shanmugasundram Tag de novo tag was added to gene: EIF4A2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | EIF4A2 | Achchuthan Shanmugasundram edited their review of gene: EIF4A2: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for EIF4A2-related neurodevelopmental disorder with hypotonia and epilepsy are moderate, monoallelic_autosomal and undetermined (PMID:36528028). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03471. The DDG2P confidence category, allelic requirement and molecular mechanism for EIF4A2-related neurodevelopmental disorder are limited, biallelic_autosomal and undetermined (PMID:36528028). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03472.; Changed phenotypes to: MONDO:0957541, EIF4A2-related neurodevelopmental disorder with hypotonia and epilepsy, EIF4A2-related neurodevelopmental disorder, Autosomal dominant EIF4A2-related neurodevelopmental disorder with hypotonia and epilepsy, OMIM:620455.0, Autosomal recessive EIF4A2-related neurodevelopmental disorder | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v4.10 | EIF4A2 | Achchuthan Shanmugasundram reviewed gene: EIF4A2: Rating: GREEN; Mode of pathogenicity: Other; Publications: 36528028; Phenotypes: Autosomal recessive EIF4A2-related neurodevelopmental disorder, Autosomal dominant EIF4A2-related neurodevelopmental disorder with hypotonia and epilepsy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v4.9 | EIF4A2 |
Achchuthan Shanmugasundram gene: EIF4A2 was added gene: EIF4A2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: EIF4A2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: EIF4A2 were set to 36528028 Phenotypes for gene: EIF4A2 were set to Autosomal recessive EIF4A2-related neurodevelopmental disorder; Autosomal dominant EIF4A2-related neurodevelopmental disorder with hypotonia and epilepsy Mode of pathogenicity for gene: EIF4A2 was set to Other |
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