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| DDG2P v6.221 | KCNK3 | Achchuthan Shanmugasundram Mode of pathogenicity for gene: KCNK3 was changed from Other to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | KCNK3 | Achchuthan Shanmugasundram edited their review of gene: KCNK3: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for KCNK3-related developmental delay with sleep apnea are strong, monoallelic_autosomal and undetermined (PMIDs: 33057194, 36195757). The cross-cutting modifier is restricted mutation set. More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02892.; Changed phenotypes to: KCNK3-related developmental disorder (monoallelic), KCNK3-associated developmental delay with sleep apnea, KCNK3-related developmental delay with sleep apnea, MONDO:0700360 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v4.10 | KCNK3 | Achchuthan Shanmugasundram edited their review of gene: KCNK3: Added comment: The DDG2P confidence category for the disease KCNK3-associated developmental delay with sleep apnea is strong. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMID: 36195757;33057194).; Changed publications to: 36195757, 33057194; Changed phenotypes to: KCNK3-related developmental disorder (monoallelic), KCNK3-associated developmental delay with sleep apnea | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | KCNK3 | Achchuthan Shanmugasundram reviewed gene: KCNK3: Rating: GREEN; Mode of pathogenicity: Other; Publications: 33057194; Phenotypes: KCNK3-related developmental disorder (monoallelic); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | KCNK3 |
Achchuthan Shanmugasundram gene: KCNK3 was added gene: KCNK3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: KCNK3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: KCNK3 were set to 33057194 Phenotypes for gene: KCNK3 were set to KCNK3-related developmental disorder (monoallelic) Mode of pathogenicity for gene: KCNK3 was set to Other |
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