Mitochondrial disorders
Gene: COX6B1
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Publications for gene: COX6B1 were set to
Phenotypes for gene: COX6B1 were changed from Isolated complex IV deficiency; Cytochrome c oxidase deficiency, 220110; Mitochondrial Diseases; Mitochondrial Respiratory Chain Complex IV Deficiency to Mitochondrial complex IV deficiency, nuclear type 7, OMIM:619051
Victorian Clinical Genetics Services was added to COX6B1. Panel: Mitochondrial disorders
Model of inheritance for gene COX6B1 was changed to BIALLELIC, autosomal or pseudoautosomal
COX6B1 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 COX6B1 was changed to BIALLELIC, autosomal or pseudoautosomal
COX6B1 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 COX6B1 was changed to BIALLELIC, autosomal or pseudoautosomal
COX6B1 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 COX6B1 was changed to BIALLELIC, autosomal or pseudoautosomal
COX6B1 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
COX6B1 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