1. Panels
  2. Mitochondrial disease
  3. SUCLA2
Genes in panel
Prev Next
STRs in panel
Prev Next
Regions in panel
Prev Next

Mitochondrial disease

Gene: SUCLA2

Green List (high evidence)
SUCLA2 (succinate-CoA ligase ADP-forming beta subunit)
EnsemblGeneIds (GRCh38): ENSG00000136143
EnsemblGeneIds (GRCh37): ENSG00000136143
OMIM: 603921, Gene2Phenotype
SUCLA2 is in 15 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Bi-allelic variants in this gene are associated with a disorder characterised by infantile onset of hypotonia, progressive neurologic deterioration, a hyperkinetic-dystonic movement disorder, external ophthalmoplegia, deafness, and variable renal tubular dysfunction. More than 10 unrelated families reported.
Created: 20 Dec 2020, 10:11 a.m. | Last Modified: 20 Dec 2020, 10:11 a.m.
Panel Version: 0.5733

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria), MIM# 612073, MONDO:0012791

Publications

Created: 20 Dec 2020, 10:11 a.m.
Last Modified: 20 Dec 2020, 10:11 a.m.
Panel version: Imported from Mendeliome panel version 0.5733

History Filter Activity

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: SUCLA2 was added gene: SUCLA2 was added to Mitochondrial_AGHA_VCGS. Sources: Expert Review Green,Australian Genomics Health Alliance Mitochondrial Flagship,Victorian Clinical Genetics Services Mode of inheritance for gene: SUCLA2 was set to Unknown