Hyperammonaemia
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
2 reviews
Peter Clayton (UCL Institute of Child Health)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria
Ellen McDonagh (Genomics England Curator)
Please note that phenotypes that already existed for this gene panel (viewed under Gene Summary) and Ensembl transcripts were accidently uploaded under Peter Clayton (UCL Institute of Child Health)'s review and were not suggested by him. We are working on a fix in PanelApp to correct this.Created: 5 Nov 2015, 5:19 p.m.
Details
- Sources
-
- Emory Genetics Laboratory
- OMIM
- 611224
- Clinvar variants
- Variants in SUCLG1
- Penetrance
- Complete
- Panels with this gene
-
- Intellectual disability
- Mitochondrial DNA maintenance disorder
- Structural basal ganglia disorders
- Fetal anomalies
- Possible mitochondrial disorder - nuclear genes
- Likely inborn error of metabolism
- Paediatric pseudo-obstruction syndrome
- DDG2P
- Mitochondrial disorders
- Undiagnosed metabolic disorders
- Early onset or syndromic epilepsy
- Adult onset dystonia, chorea or related movement disorder
- Childhood onset dystonia, chorea or related movement disorder
- Hyperammonaemia
History Filter Activity
22 Nov 2016, Gel status: 1
panel promoted to version 1
Sarah Leigh (Genomics England Curator)Promoted to version 1 on 22nd November 2016
5 May 2015, Gel status: 1
Added New Source
Eik Haraldsdottir (Genomics England)SUCLG1 was added to Hyperammonaemiapanel. Sources: Emory Genetics Laboratory