This Panel is marked as Internal
Lactic acidosis
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
1 review
Ellen McDonagh (Genomics England Curator)
Comment on list classification: Expert review recommended that the mitochondrial panel be applied.Created: 8 Feb 2016, 9:40 a.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Removed
- Illumina TruGenome Clinical Sequencing Services
- Phenotypes
-
- Fatal Infantile Lactic Acidosis
- OMIM
- 611224
- Clinvar variants
- Variants in SUCLG1
- Penetrance
- Complete
- Panels with this gene
-
- Intellectual disability
- Hyperammonaemia
- Fetal anomalies
- Paediatric pseudo-obstruction syndrome
- Undiagnosed metabolic disorders
- Childhood onset dystonia, chorea or related movement disorder
- Structural basal ganglia disorders
- Likely inborn error of metabolism
- Adult onset dystonia, chorea or related movement disorder
- Mitochondrial DNA maintenance disorder
- Mitochondrial disorders
- Early onset or syndromic epilepsy
- Possible mitochondrial disorder - nuclear genes
- DDG2P
History Filter Activity
8 Feb 2016, Gel status: 0
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been removed from the panel.
11 May 2015, Gel status: 1
Added New Source
Eik Haraldsdottir (Genomics England)SUCLG1 was added to Lactic acidosispanel. Sources: Illumina TruGenome Clinical Sequencing Services