Possible mitochondrial disorder - nuclear genes
Gene: SUCLG1EnsemblGeneIds (GRCh38): ENSG00000163541
EnsemblGeneIds (GRCh37): ENSG00000163541
OMIM: 611224, Gene2Phenotype
SUCLG1 is in 14 panels
3 reviews
Ivone Leong (Genomics England Curator)
Initial gene list and info collated by Carl Fratter (Oxford University Hospitals NHS Trust) January 2019 on behalf of the GMS Mitochondrial specialist test group.Created: 4 Feb 2019, 1:36 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria), 245400
Carl Fratter (Oxford University Hospitals NHS Trust)
Variants in this GENE are reported as part of current diagnostic practice
Shamima Rahman (UCL Institute of Child Health)
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- 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
-
- Early onset or syndromic epilepsy
- Hyperammonaemia
- Fetal anomalies
- Paediatric pseudo-obstruction syndrome
- Undiagnosed metabolic disorders
- Intellectual disability
- 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
- Possible mitochondrial disorder - nuclear genes
- DDG2P
History Filter Activity
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ivone Leong (Genomics England Curator)gene: SUCLG1 was added gene: SUCLG1 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: SUCLG1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SUCLG1 were set to Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria), 245400