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| DDG2P v3.12 | EIF2AK2 | Achchuthan Shanmugasundram reviewed gene: EIF2AK2: Rating: GREEN; Mode of pathogenicity: Other; Publications: 32197074; Phenotypes: EIF2AK2-associated Developmental Delay, Leukoencephalopathy, and Neurologic Decompensation; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | AK2 | Achchuthan Shanmugasundram reviewed gene: AK2: Rating: GREEN; Mode of pathogenicity: ; Publications: 19043417, 19043416; Phenotypes: RETICULAR DYSGENESIS, OMIM:267500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | EIF2AK2 |
Achchuthan Shanmugasundram gene: EIF2AK2 was added gene: EIF2AK2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: EIF2AK2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: EIF2AK2 were set to 32197074 Phenotypes for gene: EIF2AK2 were set to EIF2AK2-associated Developmental Delay, Leukoencephalopathy, and Neurologic Decompensation Mode of pathogenicity for gene: EIF2AK2 was set to Other |
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| DDG2P v0.2 | AK2 | Rebecca Foulger reviewed gene: AK2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | AK2 |
Rebecca Foulger gene: AK2 was added gene: AK2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: AK2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AK2 were set to 19043417; 19043416 Phenotypes for gene: AK2 were set to RETICULAR DYSGENESIS 267500 |
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