Mitochondrial disorders
Gene: SCO1
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Variants in this GENE are reported as part of current diagnostic practice
Publications for gene: SCO1 were set to
Phenotypes for gene: SCO1 were changed from Isolated complex IV deficiency; Hepatic failure, early onset, and neurologic disorder; Mitochondrial Diseases; Mitochondrial Respiratory Chain Complex IV Deficiency to Mitochondrial complex IV deficiency, nuclear type 4, OMIM:619048
Victorian Clinical Genetics Services was added to SCO1. Panel: Mitochondrial disorders
Model of inheritance for gene SCO1 was changed to BIALLELIC, autosomal or pseudoautosomal
SCO1 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 SCO1 was changed to BIALLELIC, autosomal or pseudoautosomal
SCO1 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 SCO1 was changed to BIALLELIC, autosomal or pseudoautosomal
SCO1 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 SCO1 was changed to BIALLELIC, autosomal or pseudoautosomal
SCO1 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
SCO1 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