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| Inflammatory bowel disease v0.110 | FMNL2 | Zornitza Stark Marked gene: FMNL2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inflammatory bowel disease v0.110 | FMNL2 | Zornitza Stark Gene: fmnl2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inflammatory bowel disease v0.110 | FMNL2 |
Zornitza Stark gene: FMNL2 was added gene: FMNL2 was added to Inflammatory bowel disease. Sources: Literature Mode of inheritance for gene: FMNL2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: FMNL2 were set to 34043722 Phenotypes for gene: FMNL2 were set to inflammatory bowel disease, MONDO:0005265, FMNL2-related Review for gene: FMNL2 was set to RED Added comment: A patient was reported with a de novo heterozygous FMNL2 variant (p.Leu136Pro) and with severe very early onset inflammatory bowel disease (IBD). The functional characterisation of this variant showed that FMNL2 L136P protein displayed subcellular mislocalisation and deregulated protein autoinhibition indicating gain-of-function mechanism (PMID:34043722). Sources: Literature |
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