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| Optic neuropathy v3.7 | EPRS | Achchuthan Shanmugasundram Tag Q2_21_rating was removed from gene: EPRS. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Optic neuropathy v3.7 | EPRS | Achchuthan Shanmugasundram reviewed gene: EPRS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Optic neuropathy v3.6 | EPRS |
Achchuthan Shanmugasundram Source Expert Review Green was added to EPRS. Source NHS GMS was added to EPRS. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Optic neuropathy v2.45 | EPRS | Ivone Leong reviewed gene: EPRS: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Optic neuropathy v2.45 | EPRS | Ivone Leong Entity copied from White matter disorders and cerebral calcification - narrow panel v1.183 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Optic neuropathy v2.45 | EPRS |
Ivone Leong gene: EPRS was added gene: EPRS was added to Optic neuropathy. Sources: Expert Review Amber,Expert list new-gene-name, Q2_21_rating tags were added to gene: EPRS. Mode of inheritance for gene: EPRS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: EPRS were set to 29576217; 33805425 Phenotypes for gene: EPRS were set to Leukodystrophy, hypomyelinating, 15, MIM# 617951 |
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