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  3. FBXO11
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Genetic Epilepsy

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)

Seizures are a feature of ~25% of reported individuals with this condition.
Sources: Expert list
Created: 22 Jan 2020, 9:04 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities, 618089

Publications

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

Created: 22 Jan 2020, 9:04 a.m.

Panel version: 0.771

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities, 618089
OMIM
607871
Clinvar variants
Variants in FBXO11
Penetrance
None
Publications
Panels with this gene

History Filter Activity

22 Jan 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).

22 Jan 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).

22 Jan 2020, Gel status: 1

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 Genetic Epilepsy. Sources: Expert list Mode of inheritance for gene: FBXO11 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: FBXO11 were set to 30057029; 29796876 Phenotypes for gene: FBXO11 were set to Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities, 618089 Review for gene: FBXO11 was set to GREEN gene: FBXO11 was marked as current diagnostic