Possible mitochondrial disorder - nuclear genes
Gene: SUCLA2EnsemblGeneIds (GRCh38): ENSG00000136143
EnsemblGeneIds (GRCh37): ENSG00000136143
OMIM: 603921, Gene2Phenotype
SUCLA2 is in 20 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 5 (encephalomyopathic with or without methylmalonic aciduria), 612073
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 5 (encephalomyopathic with or without methylmalonic aciduria), OMIM:612073
- OMIM
- 603921
- Clinvar variants
- Variants in SUCLA2
- Penetrance
- None
- Panels with this gene
-
- Fetal anomalies
- Structural basal ganglia disorders
- White matter disorders and cerebral calcification - narrow panel
- Undiagnosed metabolic disorders
- Mitochondrial DNA maintenance disorder
- Early onset or syndromic epilepsy
- Likely inborn error of metabolism
- Inherited white matter disorders
- Paediatric pseudo-obstruction syndrome
- Adult onset neurodegenerative disorder
- Mitochondrial disorders
- Intellectual disability
- Early onset dystonia
- Rhabdomyolysis and metabolic muscle disorders
- Adult onset dystonia, chorea or related movement disorder
- Childhood onset dystonia, chorea or related movement disorder
- Hereditary neuropathy or pain disorder
- Possible mitochondrial disorder - nuclear genes
- Hereditary neuropathy
- Acute rhabdomyolysis
History Filter Activity
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: SUCLA2 were changed from Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria), 612073 to Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria), OMIM:612073
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ivone Leong (Genomics England Curator)gene: SUCLA2 was added gene: SUCLA2 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: SUCLA2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SUCLA2 were set to Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria), 612073