Clefting disorders
Gene: FBXO11EnsemblGeneIds (GRCh38): ENSG00000138081
EnsemblGeneIds (GRCh37): ENSG00000138081
OMIM: 607871, Gene2Phenotype
FBXO11 is in 6 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Clefting disorders in 3 of 20 reported individuals.Created: 1 Feb 2024, 4:47 a.m. | Last Modified: 1 Feb 2024, 4:47 a.m.
Panel Version: 0.248
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
intellectual developmental disorder with dysmorphic facies and behavioral abnormalities, MIM# 618089
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Amber
- Expert list
- Phenotypes
-
- Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities, 618089
- cleft lip
- OMIM
- 607871
- Clinvar variants
- Variants in FBXO11
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: fbxo11 has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: FBXO11 was added gene: FBXO11 was added to Clefting_GEL. Sources: Expert list,Expert Review Amber Mode of inheritance for gene: FBXO11 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: FBXO11 were set to 17035249; 30057029; 30679813 Phenotypes for gene: FBXO11 were set to Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities, 618089; cleft lip