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| DDG2P v3.12 | GNB1 | Achchuthan Shanmugasundram reviewed gene: GNB1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 30194818, 27108799; Phenotypes: Severe Neurodevelopmental Disability, Hypotonia, and Seizures; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | GNB1 |
Achchuthan Shanmugasundram Mode of pathogenicity for gene GNB1 was changed from Other - please provide details in the comments to Other Publications for gene: GNB1 were updated from 27108799; 30194818 to 30194818; 27108799 |
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| DDG2P v2.42 | GNB1 | Sarah Leigh Phenotypes for gene: GNB1 were changed from Severe Neurodevelopmental Disability, Hypotonia, and Seizures to Mental retardation, autosomal dominant 42 OMIM:616973; intellectual disability, autosomal dominant 42 MONDO:0014855 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | GNB1 | Rebecca Foulger reviewed gene: GNB1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | GNB1 |
Rebecca Foulger gene: GNB1 was added gene: GNB1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: GNB1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: GNB1 were set to 27108799; 30194818 Phenotypes for gene: GNB1 were set to Severe Neurodevelopmental Disability, Hypotonia, and Seizures Mode of pathogenicity for gene: GNB1 was set to Other - please provide details in the comments |
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