Mitochondrial disorders
Gene: FASTKD2
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Variants in this GENE are reported as part of current diagnostic practice
Phenotypes for gene: FASTKD2 were changed from Isolated complex IV deficiency; Mitochondrial complex IV deficiency, 220110; Mitochondrial Diseases; Mitochondrial Respiratory Chain Complex IV Deficiency to Combined oxidative phosphorylation deficiency 44, OMIM:618855
Victorian Clinical Genetics Services was added to FASTKD2. Panel: Mitochondrial disorders
Model of inheritance for gene FASTKD2 was changed to BIALLELIC, autosomal or pseudoautosomal
FASTKD2 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 FASTKD2 was changed to BIALLELIC, autosomal or pseudoautosomal
FASTKD2 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 FASTKD2 was changed to BIALLELIC, autosomal or pseudoautosomal
FASTKD2 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 FASTKD2 was changed to BIALLELIC, autosomal or pseudoautosomal
FASTKD2 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
FASTKD2 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