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DDG2P v3.12 | DHDDS | Achchuthan Shanmugasundram reviewed gene: DHDDS: Rating: GREEN; Mode of pathogenicity: Other; Publications: 29100083; Phenotypes: Epilepsy and intellectual disability; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v3.11 | DHDDS |
Achchuthan Shanmugasundram Source Expert Review Green was added to DHDDS. Mode of pathogenicity for gene DHDDS 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 | DHDDS | Rebecca Foulger reviewed gene: DHDDS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v0.1 | DHDDS |
Rebecca Foulger gene: DHDDS was added gene: DHDDS was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: DHDDS was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: DHDDS were set to 29100083 Phenotypes for gene: DHDDS were set to Epilepsy and intellectual disability Mode of pathogenicity for gene: DHDDS was set to Other - please provide details in the comments |