Mitochondrial DNA maintenance disorder
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. Gene Symbol submitted: SUCLA2; Suggested intial gene rating: Green; Information provided: Mode of inheritance and phenotype.Created: 1 Feb 2019, 4:28 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
-
- Possible mitochondrial disorder, nuclear genes
- Mitochondrial disorders
- Intellectual disability
- White matter disorders and cerebral calcification - childhood onset
- Structural basal ganglia disorders
- Likely inborn error of metabolism
- Paediatric pseudo-obstruction syndrome
- Dystonia, chorea or related movement disorder, adult onset
- Undiagnosed metabolic disorders
- Rhabdomyolysis and metabolic muscle disorders
- Inherited white matter disorders
- Dystonia, chorea or related movement disorder, childhood onset
- Hereditary neuropathy or pain disorder
- Neurodegenerative disorders, adult onset
- Early onset dystonia
- Hereditary neuropathy
- Fetal anomalies
- Early onset or syndromic epilepsy
- Mitochondrial DNA maintenance disorder
- 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 Mitochondrial DNA maintenance disorder. 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