Early onset dystonia
Gene: FASTKD2
FASTKD2 (FAST kinase domains 2)
EnsemblGeneIds (GRCh38): ENSG00000118246
EnsemblGeneIds (GRCh37): ENSG00000118246
OMIM: 612322, Gene2Phenotype
FASTKD2 is in 11 panels
EnsemblGeneIds (GRCh38): ENSG00000118246
EnsemblGeneIds (GRCh37): ENSG00000118246
OMIM: 612322, Gene2Phenotype
FASTKD2 is in 11 panels
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Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Emory Genetics Laboratory
- Phenotypes
-
- Combined oxidative phosphorylation deficiency 44, OMIM:618855
- Dystonia
- OMIM
- 612322
- Clinvar variants
- Variants in FASTKD2
- Penetrance
- Complete
- Panels with this gene
-
- Childhood onset dystonia, chorea or related movement disorder
- Likely inborn error of metabolism
- Adult onset dystonia, chorea or related movement disorder
- Early onset dystonia
- Mitochondrial disorders
- Possible mitochondrial disorder - nuclear genes
- Paediatric or syndromic cardiomyopathy
- Early onset or syndromic epilepsy
- Mitochondrial disorder with complex IV deficiency
- Undiagnosed metabolic disorders
- Adult onset neurodegenerative disorder
History Filter Activity
31 Aug 2022, Gel status: 1
Set mode of inheritance
Arina Puzriakova (Genomics England Curator)Mode of inheritance for gene: FASTKD2 was changed from to BIALLELIC, autosomal or pseudoautosomal
31 Aug 2022, Gel status: 1
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: FASTKD2 were changed from Dystonia to Combined oxidative phosphorylation deficiency 44, OMIM:618855; Dystonia
17 Oct 2016, Gel status: 1
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.
28 Apr 2015, Gel status: 1
Added New Source
GEL ()FASTKD2 was added to Early onset dystoniapanel. Sources: Emory Genetics Laboratory