Activity
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4 actions
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| DDG2P v6.243 | MAST1 | Achchuthan Shanmugasundram Mode of pathogenicity for gene: MAST1 was changed from Other to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | MAST1 | Achchuthan Shanmugasundram edited their review of gene: MAST1: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for MAST1-related developmental disorder are strong, monoallelic_autosomal and undetermined (PMIDs: 30449657, 33057194). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02878.; Changed publications to: 33057194, 30449657; Changed phenotypes to: MAST1-related developmental disorder (monoallelic), MONDO:0032648, OMIM:618273.0, MAST1-related developmental disorder | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | MAST1 | Achchuthan Shanmugasundram reviewed gene: MAST1: Rating: GREEN; Mode of pathogenicity: Other; Publications: ; Phenotypes: MAST1-related developmental disorder (monoallelic); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | MAST1 |
Achchuthan Shanmugasundram gene: MAST1 was added gene: MAST1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: MAST1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: MAST1 were set to MAST1-related developmental disorder (monoallelic) Mode of pathogenicity for gene: MAST1 was set to Other |
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