Genes in panel
STRs in panel
Prev Next
Regions in panel
Prev Next

DDG2P

Gene: FBXO11

Green List (high evidence)

FBXO11 (F-box protein 11)
EnsemblGeneIds (GRCh38): ENSG00000138081
EnsemblGeneIds (GRCh37): ENSG00000138081
OMIM: 607871, Gene2Phenotype
FBXO11 is in 7 panels

1 review

Rebecca Foulger (Genomics England curator)

I don't know

Added 'watchlist' tag to highlight different Disease confidence ratings in DD-G2P for different disorders: Rated 'possible' for FBXO11 related intellectual disability. Rated 'confirmed' for Variable Neurodevelopmental Disorder. Both disorders have monoallelic MOI and 'loss of function' MOP.
Created: 19 Apr 2019, 2:53 p.m.
Comment on list classification: Changed rating from Red to Green to reflect new 'confirmed' gene-disorder association added to DD-G2P in March 2019: Variable Neurodevelopmental Disorder.
Created: 19 Apr 2019, 2:52 p.m.
New gene:disorder association added to DDG2P in March 2019: Variable Neurodevelopmental Disorder. DDG2P Disease confidence: confirmed. DDG2P mode of pathogenicity/mutation consequence: loss of function. DDG2P mode of inheritance: monoallelic.
Created: 19 Apr 2019, 2:50 p.m.
Original DDG2P rating for FBXO11 related intellectual disability: possible.
Created: 19 Nov 2018, 11:29 a.m.

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • DD-Gene2Phenotype
Phenotypes
  • FBXO11 related intellectual disability
  • Variable Neurodevelopmental Disorder
Tags
watchlist
OMIM
607871
Clinvar variants
Variants in FBXO11
Penetrance
None
Publications
Panels with this gene

History Filter Activity

19 Apr 2019, Gel status: 3

Added Tag

Rebecca Foulger (Genomics England curator)

Tag watchlist tag was added to gene: FBXO11.

19 Apr 2019, Gel status: 3

Entity classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

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

19 Apr 2019, Gel status: 1

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Phenotypes for gene: FBXO11 were changed from FBXO11 related intellectual disability to FBXO11 related intellectual disability; Variable Neurodevelopmental Disorder

29 Jan 2019, Gel status: 1

Panel promoted to version 1.0

Rebecca Foulger (Genomics England curator)

Rebecca Foulger: Original DDG2P rating: possibl

19 Nov 2018, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Rebecca Foulger (Genomics England curator)

gene: FBXO11 was added gene: FBXO11 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: FBXO11 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: FBXO11 were set to 27620904; 30057029 Phenotypes for gene: FBXO11 were set to FBXO11 related intellectual disability