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| Mendeliome v2.0 | MELK | Gene migrated from ENSG00000165304 to ENSG00000165304 (gene set migration) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.4918 | MELK |
Zornitza Stark changed review comment from: PMID 41973119 reports four unrelated individuals from four families each carrying a heterozygous loss‑of‑function MELK variant (stop‑gain or start‑loss) and presenting with autism spectrum disorder (ASD). Mouse cortex MELK knockdown replicates cortical progenitor defects, and the authors propose MELK haploinsufficiency as a rare risk factor for ASD. Parental segregation information lacking. One of the variants is present in 10 hets in gnomAD. Sources: Literature; to: PMID 41973119 reports four unrelated individuals from four families each carrying a heterozygous loss‑of‑function MELK variant (stop‑gain or start‑loss) and presenting with autism spectrum disorder (ASD). Mouse cortex MELK knockdown replicates cortical progenitor defects, and the authors propose MELK haploinsufficiency as a rare risk factor for ASD. Parental segregation information lacking. One of the variants is present in 10 hets in gnomAD. Plenty of other LoF in gnomAD. Sources: Literature |
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| Mendeliome v1.4918 | MELK | Zornitza Stark Marked gene: MELK as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.4918 | MELK | Zornitza Stark Gene: melk has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.4918 | MELK |
Zornitza Stark gene: MELK was added gene: MELK was added to Mendeliome. Sources: Literature Mode of inheritance for gene: MELK was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: MELK were set to 41973119 Phenotypes for gene: MELK were set to Neurodevelopmental disorder, MONDO:0700092, MELK-related Review for gene: MELK was set to RED Added comment: PMID 41973119 reports four unrelated individuals from four families each carrying a heterozygous loss‑of‑function MELK variant (stop‑gain or start‑loss) and presenting with autism spectrum disorder (ASD). Mouse cortex MELK knockdown replicates cortical progenitor defects, and the authors propose MELK haploinsufficiency as a rare risk factor for ASD. Parental segregation information lacking. One of the variants is present in 10 hets in gnomAD. Sources: Literature |
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