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Mendeliome

Gene: FBXO11

Green List (high evidence)

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

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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, 5:22 a.m. | Last Modified: 4 Aug 2020, 5:22 a.m.
Panel Version: 0.3681

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

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

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
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

History Filter Activity

4 Aug 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: fbxo11 has been classified as Green List (High Evidence).

4 Aug 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: FBXO11 were changed from to Intellectual Developmental Disorder with Dysmorphic Facies and Behavioural Abnormalities, MIM#618089

4 Aug 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: FBXO11 were set to

4 Aug 2020, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: FBXO11 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: FBXO11 was added gene: FBXO11 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: FBXO11 was set to Unknown