Inherited white matter disorders
Gene: SUCLA2EnsemblGeneIds (GRCh38): ENSG00000136143
EnsemblGeneIds (GRCh37): ENSG00000136143
OMIM: 603921, Gene2Phenotype
SUCLA2 is in 20 panels
2 reviews
Ellen McDonagh (Genomics England Curator)
Comment on list classification: Gene rated green and diagnostic-grade by expert reviewer. More than 3 unrelated cases with different variants reported in OMIM. On the Minimum recommended gene list for broad spectrum genetic testing for single-nucleotide variants associated with leukodystrophies and genetic leukoencephalopathies reported in PMID: 25655951 for Mitochondrial DNA depletion syndrome 5. Green gene in the Mitochondrial panel version 1.10.
Created: 25 Aug 2016, 12:56 p.m.
Ian Berry (Leeds Genetics Laboratory)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
General Leukodystrophy & Mitochondrial Leukoencephalopathy
Publications
- Parikh et al. Molecular Genetics and Metabolism 114 (2015) 501_678
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- 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
- Complete
- Publications
-
- Parikh et al. Molecular Genetics and Metabolism 114 (2015) 501_575
- Panels with this gene
-
- Early onset or syndromic epilepsy
- Fetal anomalies
- Undiagnosed metabolic disorders
- White matter disorders and cerebral calcification - narrow panel
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
- Structural basal ganglia disorders
- Rhabdomyolysis and metabolic muscle disorders
- Hereditary neuropathy
- Adult onset dystonia, chorea or related movement disorder
- Mitochondrial DNA maintenance disorder
- Mitochondrial disorders
- Inherited white matter disorders
- Paediatric pseudo-obstruction syndrome
- Adult onset neurodegenerative disorder
- Likely inborn error of metabolism
- Acute rhabdomyolysis
- Hereditary neuropathy or pain disorder
- Early onset dystonia
- Possible mitochondrial disorder - nuclear genes
History Filter Activity
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: SUCLA2 were changed from Mitochondrial Leukoencephalopathy; Mitochondrial DNA depletion syndrome 5; Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) to Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria), OMIM:612073
panel promoted to version 1
Ellen McDonagh (Genomics England Curator)6th Oct 2016: Panel promoted to version 1 after expert review and input, further curation and clinical input.
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for SUCLA2 were set to Mitochondrial Leukoencephalopathy;Mitochondrial DNA depletion syndrome 5;Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Added New Source
Ian Berry (Leeds Genetics Laboratory)SUCLA2 was added to Inherited white matter disorderspanel. Sources: Expert list
Created
Ian Berry (Leeds Genetics Laboratory)SUCLA2 was created by [email protected]