Parkinson Disease and Complex Parkinsonism
Gene: FBXO7

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

Created: 29 Nov 2016, 3:01 p.m.

Panel version: 0.137

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.

Created: 10 Jun 2016, 9:28 a.m.

Panel version: Imported from "Early onset and familial Parkinson's Disease" panel version 0.5

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