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| DDG2P v3.12 | ATP8A2 | Achchuthan Shanmugasundram reviewed gene: ATP8A2: Rating: RED; Mode of pathogenicity: Other; Publications: 16075202, 22892528; Phenotypes: CEREBELLAR ATAXIA, INTELLECTUAL DEVELOPMENTAL DISORDER, AND DYSEQUILIBRIUM SYNDROME 4, OMIM:615268; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | ATP8A2 |
Achchuthan Shanmugasundram Mode of pathogenicity for gene ATP8A2 was changed from Other - please provide details in the comments to Other Publications for gene: ATP8A2 were updated from 22892528 to 16075202; 22892528 |
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| DDG2P v0.2 | ATP8A2 | Rebecca Foulger reviewed gene: ATP8A2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | ATP8A2 |
Rebecca Foulger gene: ATP8A2 was added gene: ATP8A2 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: ATP8A2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ATP8A2 were set to 22892528 Phenotypes for gene: ATP8A2 were set to CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 4 615268 Mode of pathogenicity for gene: ATP8A2 was set to Other - please provide details in the comments |
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