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| DDG2P v3.12 | ACVR1 | Achchuthan Shanmugasundram reviewed gene: ACVR1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 16642017, 18830232, 19085907, 18203193, 19330033; Phenotypes: FIBRODYSPLASIA OSSIFICANS PROGRESSIVA, OMIM:135100; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | ACVR1 |
Achchuthan Shanmugasundram Source Expert Review Green was added to ACVR1. Mode of pathogenicity for gene ACVR1 was changed from Other - please provide details in the comments to Other Publications for gene: ACVR1 were updated from 19330033; 16642017; 19085907; 18203193; 18830232 to 16642017; 18830232; 19085907; 18203193; 19330033 Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v0.2 | ACVR1 | Rebecca Foulger reviewed gene: ACVR1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | ACVR1 |
Rebecca Foulger gene: ACVR1 was added gene: ACVR1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: ACVR1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: ACVR1 were set to 19330033; 16642017; 19085907; 18203193; 18830232 Phenotypes for gene: ACVR1 were set to FIBRODYSPLASIA OSSIFICANS PROGRESSIVA 135100 Mode of pathogenicity for gene: ACVR1 was set to Other - please provide details in the comments |
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