Early onset dystonia
Gene: FA2HComment on list classification: Multiple cases with different ethnicities, and different variants, reported in OMIM for Spastic paraplegia 35, autosomal recessive (which includes dystonia as a clinical feature).Created: 23 Aug 2016, 1:52 p.m.
Comment on list classification: Multiple cases with different ethnicities, and different variants, reported in OMIM for Spastic paraplegia 35, autosomal recessive (which includes dystonia as a clinical feature).Created: 23 Aug 2016, 1:52 p.m.
Comment on list classification: Promoted from red to green due to feedback from Huw Morris (UCL). From the GeneReviews Neurodegeneration with Brain Iron Accumulation Disorders Overview, list of the genetic basis of ten types of NBIA (http://www.ncbi.nlm.nih.gov/books/NBK121988/).Created: 19 Aug 2016, 9:23 a.m.
Comment on list classification: Is on the Hereditary Spastic Paraplagia (HSP) NGS Panel in the UCLH National Hospital for Neurology and Neurosurgery & Institute of Neurology (NHNN) Neurogenetics genetic testing manual.Created: 10 Jun 2016, 8:16 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).
This gene has been classified as Green List (High Evidence).
Phenotypes for FA2H were set to Dystonia; fatty acid hydroxylase-associated neurodegeneration
Mode of inheritance for FA2H was changed to BIALLELIC, autosomal or pseudoautosomal
This gene has been classified as Green List (High Evidence).
FA2H was added to Early onset dystoniapanel. Sources: Emory Genetics Laboratory