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| Mendeliome v1.4570 | Chirag Patel Added reviews for gene FMO4 from panel Mendeliome | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.4569 | FMO4 | Chirag Patel Marked gene: FMO4 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.4569 | FMO4 | Chirag Patel Gene: fmo4 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.4569 | FMO4 |
Chirag Patel gene: FMO4 was added gene: FMO4 was added to Mendeliome. Sources: Literature Mode of inheritance for gene: FMO4 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: FMO4 were set to 41714691, 28940097 Phenotypes for gene: FMO4 were set to Neurodevelopmental disorder, MONDO:0700092; FMO4 related Review for gene: FMO4 was set to RED Added comment: 3 individuals from 2 unrelated families with mild‑moderate intellectual disability without additional systemic features. One family had a homozygous loss-of-function frameshift (p.(Ala520GlyfsTer13)) and the other had a homozygous missense variant (p.(Pro28His)) in FMO4 gene. Parents were heterozygous carriers. No functional validation was performed, but the gene is expressed in the brain and the variants are ultra‑rare in population databases. Sources: Literature |
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