Dystonia - childhood onset
Gene: SERAC1EnsemblGeneIds (GRCh38): ENSG00000122335
EnsemblGeneIds (GRCh37): ENSG00000122335
OMIM: 614725, Gene2Phenotype
SERAC1 is in 16 panels
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Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- MEGDEL syndrome
- Dystonia
- MEGDHEL syndrome
- 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome, 614739
- 3-MEthylGlutaconic aciduria, Dystonia-Deafness, Hepatopathy, Encephalopathy, Leigh-like syndrome
- Lesions in the basal ganglia
- OMIM
- 614725
- Clinvar variants
- Variants in SERAC1
- Penetrance
- None
- Publications
- Panels with this gene
-
- Structural basal ganglia disorders
- Monogenic hearing loss
- Childhood onset dystonia, chorea or related movement disorder
- Undiagnosed metabolic disorders
- Adult onset neurodegenerative disorder
- Intellectual disability
- Hyperammonaemia
- Mitochondrial disorders
- Likely inborn error of metabolism
- Early onset dystonia
- Possible mitochondrial disorder - nuclear genes
- Hereditary spastic paraplegia
- Adult onset dystonia, chorea or related movement disorder
- DDG2P
- Adult onset hereditary spastic paraplegia
- Childhood onset hereditary spastic paraplegia
History Filter Activity
Panel promoted to version 1.0
Louise Daugherty (Genomics England Curator)Checked against super panel made up of the panel constituents. Ready to promote to version 1
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Eleanor Williams (Genomics England Curator)gene: SERAC1 was added gene: SERAC1 was added to Dystonia - childhood onset. Sources: Expert Review Green Mode of inheritance for gene: SERAC1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SERAC1 were set to 27186703; 28482397; 27604308; 28778788; 29205472; 22683713; 16527507 Phenotypes for gene: SERAC1 were set to MEGDEL syndrome; Dystonia; MEGDHEL syndrome; 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome, 614739; 3-MEthylGlutaconic aciduria, Dystonia-Deafness, Hepatopathy, Encephalopathy, Leigh-like syndrome; Lesions in the basal ganglia