This Panel is marked as Internal
Dystonia - childhood onset
Gene: SUCLG1
SUCLG1 (succinate-CoA ligase alpha subunit)
EnsemblGeneIds (GRCh38): ENSG00000163541
EnsemblGeneIds (GRCh37): ENSG00000163541
OMIM: 611224, Gene2Phenotype
SUCLG1 is in 14 panels
EnsemblGeneIds (GRCh38): ENSG00000163541
EnsemblGeneIds (GRCh37): ENSG00000163541
OMIM: 611224, Gene2Phenotype
SUCLG1 is in 14 panels
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Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria), 245400
- OMIM
- 611224
- Clinvar variants
- Variants in SUCLG1
- Penetrance
- None
- Panels with this gene
-
- Mitochondrial disorders
- Fetal anomalies
- Structural basal ganglia disorders
- Mitochondrial DNA maintenance disorder
- Likely inborn error of metabolism
- Childhood onset dystonia, chorea or related movement disorder
- Possible mitochondrial disorder - nuclear genes
- Adult onset dystonia, chorea or related movement disorder
- Undiagnosed metabolic disorders
- Intellectual disability
- DDG2P
- Hyperammonaemia
- Paediatric pseudo-obstruction syndrome
- Early onset or syndromic epilepsy
History Filter Activity
9 Jan 2019, Gel status: 4
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
9 Jan 2019, Gel status: 4
Set Phenotypes
Louise Daugherty (Genomics England Curator)Phenotypes for gene: SUCLG1 were changed from to Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria), 245400
19 Dec 2018, Gel status: 4
Created, Added New Source, Set mode of inheritance
Eleanor Williams (Genomics England Curator)gene: SUCLG1 was added gene: SUCLG1 was added to Dystonia - childhood onset. Sources: Expert Review Green Mode of inheritance for gene: SUCLG1 was set to BIALLELIC, autosomal or pseudoautosomal