Mitochondrial disorder with complex IV deficiency
Gene: COX7B
Initial gene list and info collated by Carl Fratter (Oxford University Hospitals NHS Trust) January 2019 on behalf of the GMS Mitochondrial specialist test group. Gene Symbol submitted: COX7B; Suggested intial gene rating: Green; Information provided: Mode of inheritance and phenotype.Created: 1 Feb 2019, 4:34 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)
Phenotypes
Linear skin defects with multiple congenital anomalies 2, 300887
Comment 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)
gene: COX7B was added gene: COX7B was added to Mitochondrial disorder with complex IV deficiency. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: COX7B was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Phenotypes for gene: COX7B were set to Linear skin defects with multiple congenital anomalies 2, 300887