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| DDG2P v6.212 | INTS11 | Achchuthan Shanmugasundram Mode of pathogenicity for gene: INTS11 was changed from Other to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | INTS11 | Achchuthan Shanmugasundram edited their review of gene: INTS11: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for INTS11-related neurodevelopmental disorder with motor and language delay, ocular defects, and brain abnormalities are moderate, biallelic_autosomal and loss of function (PMIDs: 37054711, 37980560). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03549.; Changed phenotypes to: MONDO:0957386, INTS11-related neurodevelopmental disorder with motor and language delay, ocular defects, and brain abnormalities, OMIM:620428, INTS11-related neurodevelopmental disorder with motor and language delay, ocular defects, and brain abnormalities, OMIM:620428.0 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v4.10 | INTS11 | Achchuthan Shanmugasundram reviewed gene: INTS11: Rating: GREEN; Mode of pathogenicity: Other; Publications: 37054711, 37980560; Phenotypes: INTS11-related neurodevelopmental disorder with motor and language delay, ocular defects, and brain abnormalities, OMIM:620428; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v4.9 | INTS11 |
Achchuthan Shanmugasundram gene: INTS11 was added gene: INTS11 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: INTS11 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: INTS11 were set to 37054711; 37980560 Phenotypes for gene: INTS11 were set to INTS11-related neurodevelopmental disorder with motor and language delay, ocular defects, and brain abnormalities, OMIM:620428 Mode of pathogenicity for gene: INTS11 was set to Other |
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