Mitochondrial disorders
Gene: SCO2
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Variants in this GENE are reported as part of current diagnostic practice
Phenotypes for gene: SCO2 were changed from Isolated complex IV deficiency; Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1, 604377Myopia 6, 608908; Mitochondrial Diseases; Mitochondrial Respiratory Chain Complex IV Deficiency to Isolated complex IV deficiency; Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1, 604377; Myopia 6, 608908; Mitochondrial Diseases; Mitochondrial Respiratory Chain Complex IV Deficiency
Victorian Clinical Genetics Services was added to SCO2. Panel: Mitochondrial disorders
Model of inheritance for gene SCO2 was changed to BIALLELIC, autosomal or pseudoautosomal
SCO2 was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert,Expert list,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services
Model of inheritance for gene SCO2 was changed to BIALLELIC, autosomal or pseudoautosomal
SCO2 was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert,Expert list,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services
Model of inheritance for gene SCO2 was changed to BIALLELIC, autosomal or pseudoautosomal
SCO2 was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert,Expert list,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services
Model of inheritance for gene SCO2 was changed to BIALLELIC, autosomal or pseudoautosomal
SCO2 was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert,Expert list,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services
SCO2 was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert,Expert list,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services