Mitochondrial disorders
Gene: NFU1
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Variants in this GENE are reported as part of current diagnostic practice
Comment on mode of inheritance: Confirmed on G2P and OMIM.Created: 10 Feb 2016, 9:19 a.m.
Comment on list classification: Confirmed DD gene for multiple mitochondrial dysfunction syndrome 1, and both reviewers agree this gene should be promoted to green.Created: 10 Feb 2016, 9:18 a.m.
Phenotypes for gene: NFU1 were changed from Multiple mitochondrial dysfunctions syndrome 1 to Multiple mitochondrial dysfunctions syndrome 1, OMIM:605711
Victorian Clinical Genetics Services was added to NFU1. Panel: Mitochondrial disorders
This gene has been classified as Green List (High Evidence).
Mode of inheritance for NFU1 was changed to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for NFU1 were set to Multiple mitochondrial dysfunctions syndrome 1
This gene has been classified as Green List (High Evidence).
Model of inheritance for gene NFU1 was changed to BIALLELIC, autosomal or pseudoautosomal
NFU1 was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert,Expert list,Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services
Model of inheritance for gene NFU1 was changed to BIALLELIC, autosomal or pseudoautosomal
NFU1 was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert,Expert list,Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services
Model of inheritance for gene NFU1 was changed to BIALLELIC, autosomal or pseudoautosomal
NFU1 was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert,Expert list,Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services
NFU1 was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert,Expert list,Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services