Early onset dystonia

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

1 review

Ellen McDonagh (Genomics England Curator)

Comment on list classification: 3 families with Parkinson disease 15, autosomal recessive (early on-set, includes dystonia as a clinical deature) from different backgrounds reported in OMIM, with different variants.
Created: 23 Aug 2016, 1:58 p.m.
Comment on list classification: Promoted from red to green due to feedback from Huw Morris (UCL).
Created: 19 Aug 2016, 9:24 a.m.
Comment on list classification: Is on the Complex Parkinson's Disease/Dystonia NGS Panel and Parkinson's Disease NGS Panel in the UCLH National Hospital for Neurology and Neurosurgery & Institute of Neurology (NHNN) Neurogenetics genetic testing manual.
Created: 10 Jun 2016, 8:17 a.m.
Comment on mode of inheritance: Source: OMIM.
Created: 10 Jun 2016, 6:36 a.m.

Details

History Filter Activity

17 Oct 2016, Gel status: 4

panel promoted to version 1

Ellen McDonagh (Genomics England Curator)

17th Oct 2016: Promoted to version 1. The panel was revised after expert input and internal discussion with the clinical team. Other panels such as hereditary ataxia or dementia may be applied in conjunction with this panel where appropriate for genome analysis.

23 Aug 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).

23 Aug 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).

10 Jun 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).

10 Jun 2016, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for FBXO7 was changed to BIALLELIC, autosomal or pseudoautosomal

10 Jun 2016, Gel status: 4

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for FBXO7 were set to Dystonia; juvenile parkinsonism

9 Jun 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 Apr 2015, Gel status: 1

Added New Source

GEL ()

FBXO7 was added to Early onset dystoniapanel. Sources: Emory Genetics Laboratory