Early onset dystonia
Gene: FBXO7Comment 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.
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.
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
Mode of inheritance for FBXO7 was changed to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for FBXO7 were set to Dystonia; juvenile parkinsonism
This gene has been classified as Green List (High Evidence).
FBXO7 was added to Early onset dystoniapanel. Sources: Emory Genetics Laboratory