Clefting
Gene: FBXO11Comment 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.Created: 3 Sep 2019, 9:03 a.m. | Last Modified: 3 Sep 2019, 9:03 a.m.
Panel Version: 1.59
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.Created: 27 Aug 2019, 12:41 p.m. | Last Modified: 27 Aug 2019, 12:41 p.m.
Panel Version: 1.56
Gene suggested for the panel by Andrew Wilkie, Oxford University Hospitals NHS Foundation Trust
Sources: Expert listCreated: 27 Aug 2019, 10:30 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
cleft lip; Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities, 618089
Publications
Gene: fbxo11 has been classified as Amber List (Moderate Evidence).
Publications for gene: FBXO11 were set to 30057029; 30679813; 17035249
Publications for gene: FBXO11 were set to 30057029; 30679813
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