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| Severe Paediatric Disorders v1.27 | KCNMA1 | Arina Puzriakova Publications for gene: KCNMA1 were set to 30847515 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v1.26 | KCNMA1 | Arina Puzriakova Phenotypes for gene: KCNMA1 were changed from Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy, 609446; Cerebellar atrophy, developmental delay, and seizures, 617643 to Cerebellar atrophy, developmental delay, and seizures, OMIM:617643; Cerebellar atrophy, developmental delay, and seizures, MONDO:0060551; Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy, OMIM:609446; Generalized epilepsy-paroxysmal dyskinesia syndrome, MONDO:0012276; Liang-Wang syndrome, OMIM:618729; Liang-Wang syndrome, MONDO:0032886 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.17 | KCNMA1 | Louise Daugherty Mode of inheritance for gene KCNMA1 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.12 | KCNMA1 | Louise Daugherty reviewed gene: KCNMA1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.11 | KCNMA1 | Louise Daugherty Publications for gene KCNMA1 were updated from to 30847515 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.10 | KCNMA1 | Louise Daugherty Added phenotypes Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy, 609446; Cerebellar atrophy, developmental delay, and seizures, 617643 for gene: KCNMA1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.9 | KCNMA1 | Louise Daugherty Added phenotypes Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy, 609446; Cerebellar atrophy, developmental delay, and seizures, 617643 for gene: KCNMA1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.9 | KCNMA1 | Louise Daugherty Added phenotypes Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy, 609446; Cerebellar atrophy, developmental delay, and seizures, 617643 for gene: KCNMA1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.8 | KCNMA1 | Louise Daugherty Added phenotypes Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy, 609446; Cerebellar atrophy, developmental delay, and seizures, 617643 for gene: KCNMA1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.7 | KCNMA1 | Louise Daugherty Source Next Generation Children Project was added to KCNMA1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.5 | KCNMA1 |
Louise Daugherty Source Expert Review Green was added to KCNMA1. Rating Changed from Red List (low evidence) to Green List (high evidence) |
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| Severe Paediatric Disorders v0.4 | KCNMA1 |
Louise Daugherty gene: KCNMA1 was added gene: KCNMA1 was added to Severe Paediatric Disorders. Sources: Expert list Mode of inheritance for gene: KCNMA1 was set to |
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