Activity
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| Severe microcephaly v8.34 | MRPL49 | Eleanor Williams Tag Q2_25_ promote_green was removed from gene: MRPL49. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v8.34 | MRPL49 | Eleanor Williams reviewed gene: MRPL49: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v8.33 | MRPL49 |
Eleanor Williams Source NHS GMS was added to MRPL49. Source Expert Review Green was added to MRPL49. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Severe microcephaly v8.15 | MRPL49 | Arina Puzriakova Entity copied from Intellectual disability v9.128 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v8.15 | MRPL49 |
Arina Puzriakova gene: MRPL49 was added gene: MRPL49 was added to Severe microcephaly. Sources: Literature,Expert Review Amber Q2_25_ promote_green tags were added to gene: MRPL49. Mode of inheritance for gene: MRPL49 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MRPL49 were set to 40043708 Phenotypes for gene: MRPL49 were set to Combined oxidative phosphorylation deficiency 60, OMIM:621195; combined oxidative phosphorylation deficiency, MONDO:0000732 |
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