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| DDG2P v6.157 | ERI1 | Achchuthan Shanmugasundram Mode of pathogenicity for gene: ERI1 was changed from Other to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | ERI1 | Achchuthan Shanmugasundram edited their review of gene: ERI1: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for ERI1-related severe growth restriction and skeletal dysplasia are moderate, biallelic_autosomal and loss of function (PMID:37352860). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03515. The DDG2P confidence category, allelic requirement and molecular mechanism for ERI1-related brachydactyly and mild neurodevelopmental delay are moderate, biallelic_autosomal and loss of function (PMIDs: 28488351, 36208065, 37352860). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03516.; Changed publications to: 37352860, 36208065, 28488351; Changed phenotypes to: ERI1-related brachydactyly and mild neurodevelopmental delay, OMIM:620662.0, MONDO:0958005, ERI1-related severe growth restriction and skeletal dysplasia, MONDO:0958006, OMIM:620663.0 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v4.10 | ERI1 | Achchuthan Shanmugasundram reviewed gene: ERI1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 36208065, 37352860, 28488351; Phenotypes: ERI1-related brachydactyly and mild neurodevelopmental delay, ERI1-related severe growth restriction and skeletal dysplasia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v4.9 | ERI1 |
Achchuthan Shanmugasundram gene: ERI1 was added gene: ERI1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: ERI1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ERI1 were set to 36208065; 37352860; 28488351 Phenotypes for gene: ERI1 were set to ERI1-related brachydactyly and mild neurodevelopmental delay; ERI1-related severe growth restriction and skeletal dysplasia Mode of pathogenicity for gene: ERI1 was set to Other |
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