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DDG2P v3.12 | PHACTR1 | Achchuthan Shanmugasundram reviewed gene: PHACTR1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 23033978, 30256902; Phenotypes: PHACTR1-associated neurodevelopment disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v3.11 | PHACTR1 |
Achchuthan Shanmugasundram Source Expert Review Green was added to PHACTR1. Mode of pathogenicity for gene PHACTR1 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 v0.53 | PHACTR1 | Rebecca Foulger reviewed gene: PHACTR1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v0.52 | PHACTR1 |
Rebecca Foulger gene: PHACTR1 was added gene: PHACTR1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: PHACTR1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: PHACTR1 were set to 23033978; 30256902 Phenotypes for gene: PHACTR1 were set to PHACTR1-associated neurodevelopment disorder Mode of pathogenicity for gene: PHACTR1 was set to Other - please provide details in the comments |