| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Mendeliome v2.0 | DENR | Gene migrated from ENSG00000139726 to ENSG00000139726 (gene set migration) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.5001 | DENR | Zornitza Stark Marked gene: DENR as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.5001 | DENR | Zornitza Stark Gene: denr has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.5001 | DENR | Zornitza Stark Classified gene: DENR as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.5001 | DENR | Zornitza Stark Gene: denr has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.5000 | DENR |
Zornitza Stark gene: DENR was added gene: DENR was added to Mendeliome. Sources: Literature Mode of inheritance for gene: DENR was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: DENR were set to 27239039 Phenotypes for gene: DENR were set to Neurodevelopmental disorder, MONDO:0700092, DENR-related Review for gene: DENR was set to AMBER Added comment: Two individuals from two unrelated families with de novo heterozygous missense variants in DENR presenting with a neurodevelopmental disorder characterised by autism, epilepsy and periventricular nodular heterotopia. Functional assays—including a mouse in utero electroporation rescue assay, Drosophila S2 cell stuORF reporter and HeLa stuORF reporter—demonstrate loss‑of‑function, satisfying the functional criteria for disease causality. However, no further reports in 10 years -- hence Amber rating. Sources: Literature |
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