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| DDG2P v3.12 | ACTA1 | Achchuthan Shanmugasundram reviewed gene: ACTA1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 10508519; Phenotypes: NEMALINE MYOPATHY 3, OMIM:161800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | ACTA1 |
Achchuthan Shanmugasundram Source Expert Review Green was added to ACTA1. Mode of pathogenicity for gene ACTA1 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 v1.82 | ACTA1 | Rebecca Foulger Phenotypes for gene: ACTA1 were changed from NEMALINE MYOPATHY 3 to NEMALINE MYOPATHY 3, 161800 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | ACTA1 | Rebecca Foulger reviewed gene: ACTA1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | ACTA1 |
Rebecca Foulger gene: ACTA1 was added gene: ACTA1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: ACTA1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ACTA1 were set to 10508519 Phenotypes for gene: ACTA1 were set to NEMALINE MYOPATHY 3 Mode of pathogenicity for gene: ACTA1 was set to Other - please provide details in the comments |
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