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| Clefting v1.59 | FBXO11 | Eleanor Williams Classified gene: FBXO11 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Clefting v1.59 | FBXO11 | Eleanor Williams Added comment: Comment on list classification: Promoting from red to amber as there are some cases reported, but the incidence of clefting is low and in one paper they felt the clefting phenotype was not related to the main phenotype of developmental delay. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Clefting v1.59 | FBXO11 | Eleanor Williams Gene: fbxo11 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Clefting v1.57 | FBXO11 | Catherine Snow Publications for gene: FBXO11 were set to 30057029; 30679813; 17035249 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Clefting v1.57 | FBXO11 | Catherine Snow Publications for gene: FBXO11 were set to 30057029; 30679813 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Clefting v1.56 | FBXO11 |
Catherine Snow edited their review of gene: FBXO11: Added comment: PMID:30057029 reports on 20 individuals with a variable neurodevelopmental disorder all with de novo variants in FBXO11. Three of the individuals had clefting phenotypes. One had a cleft lip (c.1825_ 1829del (p.Glu609*), one had a cleft palate (c.2729A>G (p.Asp910Gly) and one had a bifid uvula (c.1868C>G (p.Thr623Arg)). All individuals had developmental delay. PMID:30679813 reports on 24 individuals with de novo variants in FBXO11, one individual had a submucosal cleft palate, although the authors feel that this was not related to the phenotype of DD/ID that was found in all the individuals. PMID:17035249 - A mutation in the F-box gene, Fbxo11 causes otitis media in the Jeff mouse found that homozygous Fbxo11 mutants all have clefting of the hard or soft palate as well as facial clefting. Hetrozygous mouse had no clefting phenotypes.; Changed publications: 30057029, 30679813, 17035249 |
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| Clefting v1.56 | FBXO11 |
Catherine Snow gene: FBXO11 was added gene: FBXO11 was added to Clefting. Sources: Expert list Mode of inheritance for gene: FBXO11 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: FBXO11 were set to 30057029; 30679813 Phenotypes for gene: FBXO11 were set to cleft lip; Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities, 618089 Review for gene: FBXO11 was set to AMBER Added comment: Gene suggested for the panel by Andrew Wilkie, Oxford University Hospitals NHS Foundation Trust Sources: Expert list |
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