Activity
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| Severe microcephaly v8.34 | EEF1D |
Eleanor Williams Tag Q2_25_ promote_green was removed from gene: EEF1D. Tag Q2_25_ NHS_review was removed from gene: EEF1D. |
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| Severe microcephaly v8.34 | EEF1D | Eleanor Williams reviewed gene: EEF1D: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v8.33 | EEF1D |
Eleanor Williams Source NHS GMS was added to EEF1D. Source Expert Review Green was added to EEF1D. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Severe microcephaly v8.2 | EEF1D | Arina Puzriakova Entity copied from Intellectual disability v9.4 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v8.2 | EEF1D |
Arina Puzriakova gene: EEF1D was added gene: EEF1D was added to Severe microcephaly. Sources: Expert Review Amber,Literature Q2_25_ promote_green, Q2_25_ NHS_review tags were added to gene: EEF1D. Mode of inheritance for gene: EEF1D was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: EEF1D were set to 36576126; 30787422; 38083972; 28097321 Phenotypes for gene: EEF1D were set to Neurodevelopmental disorder with thin corpus callosum, hypotonia, and absent language, OMIM:621150 |
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