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| Lymphoedema_syndromic v0.4 | FBXL7 | Zornitza Stark Marked gene: FBXL7 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Lymphoedema_syndromic v0.4 | FBXL7 | Zornitza Stark Gene: fbxl7 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Lymphoedema_syndromic v0.4 | FBXL7 |
Zornitza Stark gene: FBXL7 was added gene: FBXL7 was added to Lymphoedema_syndromic. Sources: Literature Mode of inheritance for gene: FBXL7 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FBXL7 were set to 31633297 Phenotypes for gene: FBXL7 were set to Hennekam syndrome; lymphedema Review for gene: FBXL7 was set to RED Added comment: Homozygous deletion of exon 3 of FBXL7 (predicted to be in-frame) in a 2-year old with novel form of Hennekam syndrome. Each parent was heterozygous. Patient had lymphedema, protein‐losing enteropathy, dental anomalies, camptodactyly, microtia, small auditory canals, ductive hearing loss, middle ear anomalies, bifid scrotum, and facial dysmorphic features including hypertelorism, telecanthus, epicanthal folds, downslanting palpebral fissures, broad and depressed nasal bridge, and thickened nasal alae. Sources: Literature |
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