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| DDG2P v6.240 | MAN1B1 | Achchuthan Shanmugasundram Mode of pathogenicity for gene: MAN1B1 was changed from Other to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | MAN1B1 | Achchuthan Shanmugasundram edited their review of gene: MAN1B1: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for MAN1B1-related intellectual developmental disorder are definitive, biallelic_autosomal and undetermined (PMIDs: 21763484, 21937992, 24348268, 24566669, 26279649, 26577042). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01138.; Changed publications to: 26279649, 26577042, 24348268, 21937992, 21763484, 24566669; Changed phenotypes to: AUTOSOMAL RECESSIVE INTELLECTUAL DEVELOPMENTAL DISORDER, MONDO:0013624, MAN1B1-related intellectual developmental disorder, OMIM:614202.0 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | MAN1B1 | Achchuthan Shanmugasundram reviewed gene: MAN1B1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 21937992, 26279649, 24566669, 26577042, 21763484, 24348268; Phenotypes: AUTOSOMAL RECESSIVE INTELLECTUAL DEVELOPMENTAL DISORDER; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | MAN1B1 |
Achchuthan Shanmugasundram Mode of pathogenicity for gene MAN1B1 was changed from Other - please provide details in the comments to Other Publications for gene: MAN1B1 were updated from 26577042; 24348268; 21763484; 24566669; 26279649; 21937992 to 21937992; 26279649; 24566669; 26577042; 21763484; 24348268 |
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| DDG2P v0.2 | MAN1B1 | Rebecca Foulger reviewed gene: MAN1B1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | MAN1B1 |
Rebecca Foulger gene: MAN1B1 was added gene: MAN1B1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: MAN1B1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MAN1B1 were set to 26577042; 24348268; 21763484; 24566669; 26279649; 21937992 Phenotypes for gene: MAN1B1 were set to AUTOSOMAL RECESSIVE MENTAL RETARDATION Mode of pathogenicity for gene: MAN1B1 was set to Other - please provide details in the comments |
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