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| DDG2P v3.12 | EPRS | Achchuthan Shanmugasundram reviewed gene: EPRS: Rating: GREEN; Mode of pathogenicity: ; Publications: 29576217; Phenotypes: Hypomyelinating Leukodystrophy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | EPRS |
Achchuthan Shanmugasundram Source Expert Review Green was added to EPRS. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v1.80 | EPRS | Louise Daugherty Tag new-gene-name tag was added to gene: EPRS. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.80 | EPRS | Louise Daugherty commented on gene: EPRS | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.38 | EPRS | Rebecca Foulger reviewed gene: EPRS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.37 | EPRS |
Rebecca Foulger gene: EPRS was added gene: EPRS was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: EPRS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: EPRS were set to 29576217 Phenotypes for gene: EPRS were set to Hypomyelinating Leukodystrophy |
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