Mitochondrial disorders
Gene: SUCLA2
Variants in this GENE are reported as part of current diagnostic practice
Phenotypes for gene: SUCLA2 were changed from Disorders of mitochondrial DNA maintenance and integrity; Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonicaciduria), 612073; Mitochondrial DNA Depletion Syndrome to Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria), OMIM:612073; Required for mtDNA maintenance (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); Disorders of mitochondrial DNA maintenance and integrity
Victorian Clinical Genetics Services was added to SUCLA2. Panel: Mitochondrial disorders
Model of inheritance for gene SUCLA2 was changed to BIALLELIC, autosomal or pseudoautosomal
SUCLA2 was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert,Expert list,Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services,UKGTN
Model of inheritance for gene SUCLA2 was changed to BIALLELIC, autosomal or pseudoautosomal
SUCLA2 was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert,Expert list,Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services,UKGTN
Model of inheritance for gene SUCLA2 was changed to BIALLELIC, autosomal or pseudoautosomal
SUCLA2 was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert,Expert list,Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services,UKGTN
Model of inheritance for gene SUCLA2 was changed to BIALLELIC, autosomal or pseudoautosomal
SUCLA2 was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert,Expert list,Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services,UKGTN
SUCLA2 was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert,Expert list,Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services,UKGTN