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| DDG2P v3.12 | KCNMA1 | Achchuthan Shanmugasundram reviewed gene: KCNMA1: Rating: GREEN; Mode of pathogenicity: ; Publications: 34224328, 31152168, 27567911, 15937479, 33178487, 29545233, 32132200, 29330545; Phenotypes: KCNMA1-related developmental delay, seizures and cerebellar atrophy, GENERALIZED EPILEPSY AND PAROXYSMAL DYSKINESIA, OMIM:609446; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | KCNMA1 |
Achchuthan Shanmugasundram Source Expert Review Green was added to KCNMA1. Mode of inheritance for gene KCNMA1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: KCNMA1 were updated from 15937479 to 34224328; 31152168; 15937479; 27567911; 33178487; 29545233; 32132200; 29330545 Rating Changed from Red List (low evidence) to Green List (high evidence) |
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| DDG2P v0.2 | KCNMA1 | Rebecca Foulger reviewed gene: KCNMA1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | KCNMA1 |
Rebecca Foulger gene: KCNMA1 was added gene: KCNMA1 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: KCNMA1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: KCNMA1 were set to 15937479 Phenotypes for gene: KCNMA1 were set to GENERALIZED EPILEPSY AND PAROXYSMAL DYSKINESIA 609446 Mode of pathogenicity for gene: KCNMA1 was set to Other - please provide details in the comments |
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