Mitochondrial disorders
Gene: COX10
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Variants in this GENE are reported as part of current diagnostic practice
Phenotypes for gene: COX10 were changed from Isolated complex IV deficiency; Encephalopathy, progressive mitochondrial, with proximal renal tubulopathy due to cytochrome coxidase deficiency; Mitochondrial Diseases; Mitochondrial Respiratory Chain Complex IV Deficiency to Mitochondrial complex IV deficiency, nuclear type 3, OMIM:619046
Victorian Clinical Genetics Services was added to COX10. Panel: Mitochondrial disorders
Model of inheritance for gene COX10 was changed to BIALLELIC, autosomal or pseudoautosomal
COX10 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 COX10 was changed to BIALLELIC, autosomal or pseudoautosomal
COX10 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 COX10 was changed to BIALLELIC, autosomal or pseudoautosomal
COX10 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 COX10 was changed to BIALLELIC, autosomal or pseudoautosomal
COX10 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
COX10 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