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| DDG2P v3.12 | SLC12A5 | Achchuthan Shanmugasundram reviewed gene: SLC12A5: Rating: GREEN; Mode of pathogenicity: Other; Publications: 28477354, 26333769, 27436767; Phenotypes: SLC12A5-related epilepsy of infancy with migrating focal seizures; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | SLC12A5 |
Achchuthan Shanmugasundram Source Expert Review Green was added to SLC12A5. Mode of inheritance for gene SLC12A5 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BIALLELIC, autosomal or pseudoautosomal Mode of pathogenicity for gene SLC12A5 was changed from Other - please provide details in the comments to Other Publications for gene: SLC12A5 were updated from 24668262 to 24668262; 28477354; 26333769; 27436767 Rating Changed from Red List (low evidence) to Green List (high evidence) |
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| DDG2P v0.2 | SLC12A5 | Rebecca Foulger reviewed gene: SLC12A5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | SLC12A5 |
Rebecca Foulger gene: SLC12A5 was added gene: SLC12A5 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: SLC12A5 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SLC12A5 were set to 24668262 Phenotypes for gene: SLC12A5 were set to FEBRILE SEIZURES Mode of pathogenicity for gene: SLC12A5 was set to Other - please provide details in the comments |
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