Mitochondrial disorders
Gene: NDUFB3Comment on list classification: Carl Fratter also confirmed this gene should be promoted from red to green.Created: 7 Mar 2016, 6:08 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NDUFB3 were changed from Isolated complex I deficiency; Mitochondrial complex I deficiency, 252010 to Mitochondrial complex I deficiency, nuclear type 25, OMIM:618246
Victorian Clinical Genetics Services was added to NDUFB3. Panel: Mitochondrial disorders
This gene has been classified as Green List (High Evidence).
Mode of inheritance for NDUFB3 was changed to BIALLELIC, autosomal or pseudoautosomal
This gene has been classified as Green List (High Evidence).
NDUFB3 was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert,Expert list,Radboud University Medical Center, Nijmegen
NDUFB3 was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert,Expert list,Radboud University Medical Center, Nijmegen
NDUFB3 was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert,Expert list,Radboud University Medical Center, Nijmegen