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| Mendeliome v1.1353 | FMNL2 | Zornitza Stark Marked gene: FMNL2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.1353 | FMNL2 | Zornitza Stark Gene: fmnl2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.1353 | FMNL2 | Zornitza Stark Phenotypes for gene: FMNL2 were changed from inflammatory bowel disease, MONDO:0005265 to inflammatory bowel disease, MONDO:0005265, FMNL2-related | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.1352 | FMNL2 | Zornitza Stark Classified gene: FMNL2 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.1352 | FMNL2 | Zornitza Stark Gene: fmnl2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.1351 | FMNL2 |
Achchuthan Shanmugasundram gene: FMNL2 was added gene: FMNL2 was added to Mendeliome. 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 Mode of pathogenicity for gene: FMNL2 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments Review for gene: FMNL2 was set to AMBER 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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