Mitochondrial disorders
Gene: NDUFS1
Phenotypes for gene: NDUFS1 were changed from Isolated complex I deficiency; Mitochondrial complex I deficiency, 252010; Mitochondrial Diseases; Mitochondrial Respiratory Chain Complex I Deficiency to Mitochondrial complex I deficiency, nuclear type 5, OMIM:618226
Victorian Clinical Genetics Services was added to NDUFS1. Panel: Mitochondrial disorders
Model of inheritance for gene NDUFS1 was changed to BIALLELIC, autosomal or pseudoautosomal
NDUFS1 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 NDUFS1 was changed to BIALLELIC, autosomal or pseudoautosomal
NDUFS1 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 NDUFS1 was changed to BIALLELIC, autosomal or pseudoautosomal
NDUFS1 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 NDUFS1 was changed to BIALLELIC, autosomal or pseudoautosomal
NDUFS1 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
NDUFS1 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