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| Severe microcephaly v4.33 | NUP214 | Sarah Leigh Tag Q1_23_promote_green was removed from gene: NUP214. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v4.33 | NUP214 | Sarah Leigh edited their review of gene: NUP214: Added comment: The rating of this gene has been updated to Green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v4.32 | NUP214 |
Sarah Leigh Source Expert Review Green was added to NUP214. Source NHS GMS was added to NUP214. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Severe microcephaly v3.8 | NUP214 | Sarah Leigh Entity copied from Genetic epilepsy syndromes v3.67 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v3.8 | NUP214 |
Sarah Leigh gene: NUP214 was added gene: NUP214 was added to Severe microcephaly. Sources: Expert list,Expert Review Amber Q1_23_promote_green tags were added to gene: NUP214. Mode of inheritance for gene: NUP214 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NUP214 were set to 31178128; 30758658 Phenotypes for gene: NUP214 were set to Encephalopathy, acute, infection-induced, susceptibility to, 9, OMIM:618426; encephalopathy, acute, infection-induced, susceptibility to, 9, MONDO:0032742 |
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