Adult onset dystonia, chorea or related movement disorder
Gene: FASTKD2EnsemblGeneIds (GRCh38): ENSG00000118246
EnsemblGeneIds (GRCh37): ENSG00000118246
OMIM: 612322, Gene2Phenotype
FASTKD2 is in 11 panels
2 reviews
Louise Daugherty (Genomics England Curator)
This panel was initially created as a merge of genomic entities from the following Rare Disease 100K panels - Early onset dystonia (v1.76, code 192) - Parkinson Disease and Complex Parkinsonism (v1.64, code 39) - Brain channelopathy (v1.48, code 90) - Structural basal ganglia disorders (v1.10, code 180). This gene was RED and external expert review from South West GLH for GMS Neurology specialist test group for R56 agrees this gene should remain REDCreated: 19 Jun 2019, 4:19 p.m.
Review and rating from Emily Jones (North Bristol NHS Trust) on behalf of South West GLH for GMS Neurology specialist test group.Created: 23 Apr 2019, 12:18 p.m.
Emily Jones (North Bristol NHS Trust)
No association with movement disorder. Has been implicated in memoryCreated: 23 Apr 2019, 12:14 p.m.
Phenotypes
Dystonia
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- South West GLH
- Expert Review Red
- Phenotypes
-
- Combined oxidative phosphorylation deficiency 44, OMIM:618855
- Dystonia
- OMIM
- 612322
- Clinvar variants
- Variants in FASTKD2
- Penetrance
- None
- Panels with this gene
-
- Paediatric or syndromic cardiomyopathy
- Likely inborn error of metabolism
- Early onset dystonia
- Childhood onset dystonia, chorea or related movement disorder
- Possible mitochondrial disorder - nuclear genes
- Adult onset dystonia, chorea or related movement disorder
- Undiagnosed metabolic disorders
- Adult onset neurodegenerative disorder
- Mitochondrial disorder with complex IV deficiency
- Early onset or syndromic epilepsy
- Mitochondrial disorders
History Filter Activity
Set mode of inheritance
Arina Puzriakova (Genomics England Curator)Mode of inheritance for gene: FASTKD2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: FASTKD2 were changed from Dystonia to Combined oxidative phosphorylation deficiency 44, OMIM:618855; Dystonia
Set Phenotypes
Louise Daugherty (Genomics England Curator)Added phenotypes Dystonia for gene: FASTKD2
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to FASTKD2.
Added New Source
Louise Daugherty (Genomics England Curator)Source South West GLH was added to FASTKD2.
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ellen McDonagh (Genomics England Curator)gene: FASTKD2 was added gene: FASTKD2 was added to Adult onset movement disorder. Sources: Expert Review Red Mode of inheritance for gene: FASTKD2 was set to Phenotypes for gene: FASTKD2 were set to Dystonia