Mitochondrial disorders
Gene: COX7BComment on mode of inheritance: Confirmed on G2P and OMIM.Created: 26 Feb 2016, 5:13 p.m.
Comment on list classification: Promoted from red to green due to green review and confirmed DD gene.Created: 26 Feb 2016, 5:12 p.m.
two mutation reports in literature;
heterozygous mutations identified in MLS-affected femalesCreated: 4 Feb 2016, 2:02 p.m.
Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Victorian Clinical Genetics Services was added to COX7B. Panel: Mitochondrial disorders
This gene has been classified as Green List (High Evidence).
Phenotypes for COX7B were set to Isolated complex IV deficiency; Aplasia cutis congenita, reticulolinear, with microcephaly, facial dysmorphism and other congenital anomalies, 300887; MICROPHTHALMIA WITH LINEAR SKIN LESIONS; Linear skin defects with multiple congenital anomalies
Mode of inheritance for COX7B was changed to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
This gene has been classified as Green List (High Evidence).
COX7B was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert,Expert list,Radboud University Medical Center, Nijmegen
COX7B was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert,Expert list,Radboud University Medical Center, Nijmegen
COX7B was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert,Expert list,Radboud University Medical Center, Nijmegen