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| DDG2P v6.381 | TMEM106B | Achchuthan Shanmugasundram Mode of pathogenicity for gene: TMEM106B was changed from Other to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | TMEM106B | Achchuthan Shanmugasundram edited their review of gene: TMEM106B: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for TMEM106B related hypomyelinating leukodystrophy are strong, monoallelic_autosomal and undetermined (PMIDs: 29186371, 29444210). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02940.; Changed phenotypes to: TMEM106B related hypomyelinating leukodystrophy, OMIM:617964.0, MONDO:0054791 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | TMEM106B | Achchuthan Shanmugasundram reviewed gene: TMEM106B: Rating: GREEN; Mode of pathogenicity: Other; Publications: 29444210, 29186371; Phenotypes: TMEM106B related hypomyelinating leukodystrophy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | TMEM106B |
Achchuthan Shanmugasundram gene: TMEM106B was added gene: TMEM106B was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: TMEM106B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: TMEM106B were set to 29444210; 29186371 Phenotypes for gene: TMEM106B were set to TMEM106B related hypomyelinating leukodystrophy Mode of pathogenicity for gene: TMEM106B was set to Other |
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