Activity
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6 actions
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| DDG2P v6.216 | KCNA4 | Achchuthan Shanmugasundram Mode of pathogenicity for gene: KCNA4 was changed from Other to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | KCNA4 | Achchuthan Shanmugasundram edited their review of gene: KCNA4: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for KCNA4-related abnormal striatum, congenital cataract and intellectual disability are limited, biallelic_autosomal and undetermined (PMID:27582084). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02801.; Changed phenotypes to: MONDO:0032656, OMIM:618284.0, KCN4 related abnormal striatum, congenital cataract and intellectual disability., KCNA4-related abnormal striatum, congenital cataract and intellectual disability | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | KCNA4 | Achchuthan Shanmugasundram reviewed gene: KCNA4: Rating: RED; Mode of pathogenicity: Other; Publications: 27582084; Phenotypes: KCN4 related abnormal striatum, congenital cataract and intellectual disability.; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | KCNA4 |
Achchuthan Shanmugasundram Mode of pathogenicity for gene KCNA4 was changed from Other - please provide details in the comments to Other Publications for gene: KCNA4 were updated from to 27582084 |
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| DDG2P v1.152 | KCNA4 | Rebecca Foulger reviewed gene: KCNA4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.151 | KCNA4 |
Rebecca Foulger gene: KCNA4 was added gene: KCNA4 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red Mode of inheritance for gene: KCNA4 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: KCNA4 were set to KCN4 related abnormal striatum, congenital cataract and intellectual disability. Mode of pathogenicity for gene: KCNA4 was set to Other - please provide details in the comments |
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