This Panel is marked as Deleted
GMS Neurology specialist test group-Movement disorders - childhood onset-SWGLH
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
1 review
Emily Jones (North Bristol NHS Trust)
No association with movement disorder. Has been implicated in memoryCreated: 9 Jul 2019, 3:59 p.m. | Last Modified: 9 Jul 2019, 3:59 p.m.
Panel Version: 0.10
Details
- Mode of Inheritance
- Unknown
- Sources
-
- Expert Review Red
- South West GLH
- Phenotypes
-
- Dystonia
- OMIM
- 612322
- Clinvar variants
- Variants in FASTKD2
- Penetrance
- None
- Panels with this gene
-
- Early onset or syndromic epilepsy
- Mitochondrial disorders
- Early onset dystonia
- Possible mitochondrial disorder - nuclear genes
- Mitochondrial disorder with complex IV deficiency
- Childhood onset dystonia, chorea or related movement disorder
- Undiagnosed metabolic disorders
- Paediatric or syndromic cardiomyopathy
- Likely inborn error of metabolism
- Adult onset dystonia, chorea or related movement disorder
- Adult onset neurodegenerative disorder
History Filter Activity
9 Jul 2019, Gel status: 1
Set mode of inheritance, Set Phenotypes
Louise Daugherty (Genomics England Curator)Mode of inheritance for gene FASTKD2 was changed from to Unknown Added phenotypes Dystonia for gene: FASTKD2
2 Apr 2019, Gel status: 1
Added New Source
Louise Daugherty (Genomics England Curator)Source Expert Review Red was added to FASTKD2.
2 Apr 2019, Gel status: 1
Created, Added New Source, Set mode of inheritance
Louise Daugherty (Genomics England Curator)gene: FASTKD2 was added gene: FASTKD2 was added to GMS Neurology specialist test group-Movement disorders - childhood onset-SWGLH. Sources: South West GLH Mode of inheritance for gene: FASTKD2 was set to