| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Mendeliome v1.4028 | MDN1 | Zornitza Stark Marked gene: MDN1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.4028 | MDN1 | Zornitza Stark Gene: mdn1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.4028 | MDN1 |
Zornitza Stark gene: MDN1 was added gene: MDN1 was added to Mendeliome. Sources: Literature Mode of inheritance for gene: MDN1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MDN1 were set to 40217384 Phenotypes for gene: MDN1 were set to Genetic epilepsy, MONDO:0100575, MDN1-related Review for gene: MDN1 was set to RED Added comment: PMID 40217384 reports 5 individuals from 5 unrelated families with biallelic missense or splice-site variants in MDN1 presenting with childhood-onset epilepsy (febrile seizures, febrile seizures plus, and focal epilepsy secondary to brain injury). Variants are rare in gnomAD with no homs. No experimental functional validation was performed and assertions of pathogenicity rely on in-silico assessment, hence RED rating. Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||