Activity
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7 actions
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| DDG2P v6.382 | TMEM163 | Achchuthan Shanmugasundram Mode of pathogenicity for gene: TMEM163 was changed from Other to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | TMEM163 | Achchuthan Shanmugasundram edited their review of gene: TMEM163: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for TMEM163-related hypomyelinating leukodystrophy are moderate, monoallelic_autosomal and undetermined (PMIDs: 35455965, 35953447). The cross-cutting modifier is typified by incomplete penetrance. More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03373.; Changed publications to: 35455965, 35953447; Changed phenotypes to: TMEM163-related hypomyelinating leukodystrophy, MONDO:0859378, OMIM:620243.0 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.73 | TMEM163 | Achchuthan Shanmugasundram commented on gene: TMEM163: The OMIM entry for this gene is OMIM:618978, which has been cross-checked with Ensembl, HGNC and G2P. Hence, gene-checked tag has been added. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.73 | TMEM163 | Achchuthan Shanmugasundram Tag gene-checked tag was added to gene: TMEM163. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.14 | TMEM163 | Achchuthan Shanmugasundram Tag de novo tag was added to gene: TMEM163. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | TMEM163 | Achchuthan Shanmugasundram reviewed gene: TMEM163: Rating: GREEN; Mode of pathogenicity: Other; Publications: 35953447, 35455965; Phenotypes: TMEM163-related hypomyelinating leukodystrophy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | TMEM163 |
Achchuthan Shanmugasundram gene: TMEM163 was added gene: TMEM163 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: TMEM163 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: TMEM163 were set to 35953447; 35455965 Phenotypes for gene: TMEM163 were set to TMEM163-related hypomyelinating leukodystrophy Mode of pathogenicity for gene: TMEM163 was set to Other |
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