Rhabdomyolysis and Metabolic Myopathy
Gene: SUCLA2
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
Myopathy (hypotonia) is a prominent feature of the condition.
Sources: Expert listCreated: 12 Feb 2020, 8:33 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) MIM#612073
Publications
Publications for gene: SUCLA2 were set to
Gene: sucla2 has been classified as Green List (High Evidence).
Gene: sucla2 has been classified as Red List (Low Evidence).
Gene: sucla2 has been classified as Red List (Low Evidence).
gene: SUCLA2 was added gene: SUCLA2 was added to Rhabdomyolysis_RMH. Sources: Royal Melbourne Hospital,Expert Review Green 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