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| DDG2P v6.106 | CLCN6 | Achchuthan Shanmugasundram Mode of pathogenicity for gene: CLCN6 was changed from Other to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | CLCN6 | Achchuthan Shanmugasundram edited their review of gene: CLCN6: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for CLCN6-related developmental disorder are strong, monoallelic_autosomal and undetermined (PMIDs: 28074849, 29667327, 33217309). The cross-cutting modifier is restricted mutation set. More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03073.; Changed publications to: 28074849, 29667327, 33217309; Changed phenotypes to: CLCN6-related Developmental Disorder, OMIM:619173.0, CLCN6-related developmental disorder | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.14 | CLCN6 | Achchuthan Shanmugasundram Tag de novo tag was added to gene: CLCN6. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CLCN6 | Achchuthan Shanmugasundram reviewed gene: CLCN6: Rating: GREEN; Mode of pathogenicity: Other; Publications: 33217309, 28074849, 29667327; Phenotypes: CLCN6-related Developmental Disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | CLCN6 |
Achchuthan Shanmugasundram gene: CLCN6 was added gene: CLCN6 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: CLCN6 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: CLCN6 were set to 33217309; 28074849; 29667327 Phenotypes for gene: CLCN6 were set to CLCN6-related Developmental Disorder Mode of pathogenicity for gene: CLCN6 was set to Other |
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