Parkinson Disease and Complex Parkinsonism

Gene: FBXO7

Green List (high evidence)

FBXO7 (F-box protein 7)
EnsemblGeneIds (GRCh38): ENSG00000100225
EnsemblGeneIds (GRCh37): ENSG00000100225
OMIM: 605648, Gene2Phenotype
FBXO7 is in 8 panels

2 reviews

Arianna Tucci (Department of Molecular Neuroscience, UCL Institute of Neurology, Queen Square)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
parkinsonian-pyramidal syndrome;

Publications

Ellen McDonagh (Genomics England Curator)

Comment on list classification: 3 family reports in OMIM. Also green on the Early onset dystonia gene panel, Version 1.0.
Created: 28 Oct 2016, 12:45 p.m.
Comment on mode of inheritance: Confirmed in the NHNN manual.
Created: 10 Jun 2016, 9:29 a.m.
Comment on list classification: Is on the Parkinson's Disease NGS Panel and the Complex Parkinson's Disease/Dystonia NGS Panel in the UCLH National Hospital for Neurology and Neurosurgery & Institute of Neurology (NHNN) Neurogenetics genetic testing manual.
Created: 10 Jun 2016, 9:29 a.m.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Expert
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Parkinson disease 15, autosomal recessive, 260300
  • Parkinson Disease, Recessive
  • Early Onset Complex Disease
  • parkinsonian-pyramidal syndrome
OMIM
605648
Clinvar variants
Variants in FBXO7
Penetrance
Complete
Panels with this gene

History Filter Activity

19 Dec 2016, Gel status: 4

panel promoted to version 1

Ellen McDonagh (Genomics England Curator)

19th Dec 2016: panel revised according to expert review and further curation.

28 Oct 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

28 Oct 2016, Gel status: 4

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for FBXO7 were set to Parkinson disease 15, autosomal recessive, 260300; Parkinson Disease, Recessive; Early Onset Complex Disease;parkinsonian-pyramidal syndrome

28 Oct 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

19 Oct 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

19 Oct 2016, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

FBXO7 was added to Parkinson Disease and Complex Parkinsonismpanel. Sources: Radboud University Medical Center, Nijmegen,Expert,Illumina TruGenome Clinical Sequencing Services,

19 Oct 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

FBXO7 was created by ellenmcdonagh