Early onset dystonia
Gene: FA2HEnsemblGeneIds (GRCh38): ENSG00000103089
EnsemblGeneIds (GRCh37): ENSG00000103089
OMIM: 611026, Gene2Phenotype
FA2H is in 17 panels
1 review
Ellen McDonagh (Genomics England Curator)
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: 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.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Emory Genetics Laboratory
- Phenotypes
-
- Dystonia
- fatty acid hydroxylase-associated neurodegeneration
- OMIM
- 611026
- Clinvar variants
- Variants in FA2H
- Penetrance
- Complete
- Panels with this gene
-
- Structural basal ganglia disorders
- White matter disorders and cerebral calcification - narrow panel
- Undiagnosed metabolic disorders
- Likely inborn error of metabolism
- Inherited white matter disorders
- Ataxia and cerebellar anomalies - narrow panel
- Adult onset neurodegenerative disorder
- Mitochondrial disorders
- Intellectual disability
- Early onset dystonia
- Hereditary spastic paraplegia
- Adult onset dystonia, chorea or related movement disorder
- Childhood onset hereditary spastic paraplegia
- Childhood onset dystonia, chorea or related movement disorder
- Hereditary neuropathy or pain disorder
- Adult onset hereditary spastic paraplegia
- Hereditary neuropathy
History Filter Activity
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.
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for FA2H were set to Dystonia; fatty acid hydroxylase-associated neurodegeneration
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Mode of inheritance for FA2H was changed to BIALLELIC, autosomal or pseudoautosomal
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Added New Source
GEL ()FA2H was added to Early onset dystoniapanel. Sources: Emory Genetics Laboratory