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Possible mitochondrial disorder - nuclear genes

Gene: COX7B

Green List (high evidence)

COX7B (cytochrome c oxidase subunit 7B)
EnsemblGeneIds (GRCh38): ENSG00000131174
EnsemblGeneIds (GRCh37): ENSG00000131174
OMIM: 300885, Gene2Phenotype
COX7B is in 14 panels

3 reviews

Ivone Leong (Genomics England Curator)

Green List (high evidence)

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.
Created: 4 Feb 2019, 1:36 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

Ellen McDonagh (Genomics England Curator)

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.

Shamima Rahman (UCL Institute of Child Health)

Green List (high evidence)

two mutation reports in literature;

heterozygous mutations identified in MLS-affected females
Created: 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)

History Filter Activity

4 Feb 2019, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Ivone Leong (Genomics England Curator)

gene: COX7B was added gene: COX7B was added to Possible mitochondrial disorder - nuclear genes. 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