Possible mitochondrial disorder - nuclear genes
Gene: COX7BEnsemblGeneIds (GRCh38): ENSG00000131174
EnsemblGeneIds (GRCh37): ENSG00000131174
OMIM: 300885, Gene2Phenotype
COX7B is in 14 panels
3 reviews
Ivone Leong (Genomics England Curator)
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)
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)
Details
- Mode of Inheritance
- X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
- Sources
-
- NHS GMS
- Expert Review Green
- Phenotypes
-
- Linear skin defects with multiple congenital anomalies 2, 300887
- OMIM
- 300885
- Clinvar variants
- Variants in COX7B
- Penetrance
- None
- Panels with this gene
-
- Undiagnosed metabolic disorders
- Mitochondrial disorders
- Intellectual disability
- Mosaic skin disorders - deep sequencing
- Childhood onset dystonia, chorea or related movement disorder
- Ehlers Danlos syndrome with a likely monogenic cause
- DDG2P
- Structural eye disease
- Mitochondrial disorder with complex IV deficiency
- Likely inborn error of metabolism
- Possible mitochondrial disorder - nuclear genes
- Pigmentary skin disorders
- Paediatric or syndromic cardiomyopathy
- Fetal anomalies
History Filter Activity
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