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| DDG2P v3.12 | SLC5A7 | Achchuthan Shanmugasundram reviewed gene: SLC5A7: Rating: GREEN; Mode of pathogenicity: Other; Publications: 27569547; Phenotypes: Congenital Myasthenic Syndrome with Episodic Apnea; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | SLC5A7 |
Achchuthan Shanmugasundram Source Expert Review Green was added to SLC5A7. Mode of pathogenicity for gene SLC5A7 was changed from Other - please provide details in the comments to Other Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v0.2 | SLC5A7 | Rebecca Foulger reviewed gene: SLC5A7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | SLC5A7 |
Rebecca Foulger gene: SLC5A7 was added gene: SLC5A7 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: SLC5A7 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC5A7 were set to 27569547 Phenotypes for gene: SLC5A7 were set to Congenital Myasthenic Syndrome with Episodic Apnea Mode of pathogenicity for gene: SLC5A7 was set to Other - please provide details in the comments |
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