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| DDG2P v6.204 | IER3IP1 | Achchuthan Shanmugasundram Mode of pathogenicity for gene: IER3IP1 was changed from Other to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | IER3IP1 | Achchuthan Shanmugasundram edited their review of gene: IER3IP1: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for IER3IP1-related microcephaly with simplified gyral pattern, epilepsy, and neonatal diabetes are strong, biallelic_autosomal and undetermined (PMIDs: 21835305, 22991235, 24138066, 28711742, 36416459). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03485.; Changed publications to: 36416459, 22991235, 21835305, 28711742, 24138066; Changed phenotypes to: IER3IP1-related microcephaly with simplified gyral pattern, epilepsy, and neonatal diabetes, OMIM:614231.0, MONDO:0031481 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v4.10 | IER3IP1 | Achchuthan Shanmugasundram reviewed gene: IER3IP1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 36416459, 22991235, 24138066, 21835305, 28711742; Phenotypes: IER3IP1-related microcephaly with simplified gyral pattern, epilepsy, and neonatal diabetes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v4.9 | IER3IP1 |
Achchuthan Shanmugasundram gene: IER3IP1 was added gene: IER3IP1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: IER3IP1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: IER3IP1 were set to 36416459; 22991235; 24138066; 21835305; 28711742 Phenotypes for gene: IER3IP1 were set to IER3IP1-related microcephaly with simplified gyral pattern, epilepsy, and neonatal diabetes Mode of pathogenicity for gene: IER3IP1 was set to Other |
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