Intellectual disability syndromic and non-syndromic
Gene: FBXO11

FBXO11 (F-box protein 11)
EnsemblGeneIds (GRCh38): ENSG00000138081
EnsemblGeneIds (GRCh37): ENSG00000138081
OMIM: 607871, Gene2Phenotype
FBXO11 is in 6 panels

1 review

Vivian WEI (Victorian Clinical Genetics Services)

Green List (high evidence)

 PMID:30679813-Jansen’S et al 2019-Identified 24 individuals with intellectual disability with behavioral problems and dysmorphisms having either a de novo disease-causing variant in, or partial deletion of, the F-box only protein 11 gene.
 PMID: 30057029-Gregor’A et al 2018-Described de novo variants in FBXO11 in 20 individuals with a variable neurodevelopmental disorder.
 The de novo variants and partial deletions are predicted to result in loss of function and haploinsufficiency of the FBXO11 gene.
 Phenotypes-Intellectual disability (mild to severe) and speech delay are identified in all the cases reported. Other features of neurodevelopmental disorders are variable. No consistent dysmorphic facial gestalt.
Created: 4 Aug 2020, 5:06 a.m. | Last Modified: 4 Aug 2020, 5:06 a.m.

Panel Version: 0.2814

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Intellectual Developmental Disorder with Dysmorphic Facies and Behavioural Abnormalities

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 4 Aug 2020, 5:06 a.m.
Last Modified: 4 Aug 2020, 5:06 a.m.
Panel version: 0.2814

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Green
Genetic Health Queensland

Phenotypes

Intellectual Developmental Disorder with Dysmorphic Facies and Behavioural Abnormalities, MIM#618089

OMIM

607871

Clinvar variants

Variants in FBXO11

Penetrance

None

Publications

Panels with this gene