Mitochondrial disorders
Gene: COX7BEnsemblGeneIds (GRCh38): ENSG00000131174
EnsemblGeneIds (GRCh37): ENSG00000131174
OMIM: 300885, Gene2Phenotype
COX7B is in 14 panels
2 reviews
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
-
- Victorian Clinical Genetics Services
- Expert Review Green
- Radboud University Medical Center, Nijmegen
- Expert list
- Expert
- Phenotypes
-
- 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
- OMIM
- 300885
- Clinvar variants
- Variants in COX7B
- Penetrance
- Complete
- Panels with this gene
-
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
- Likely inborn error of metabolism
- Mitochondrial disorders
- Possible mitochondrial disorder - nuclear genes
- DDG2P
- Structural eye disease
- Mosaic skin disorders - deep sequencing
- Paediatric or syndromic cardiomyopathy
- Ehlers Danlos syndrome with a likely monogenic cause
- Mitochondrial disorder with complex IV deficiency
- Fetal anomalies
- Pigmentary skin disorders
- Undiagnosed metabolic disorders
History Filter Activity
Added New Source
Sarah Leigh (Genomics England Curator)Victorian Clinical Genetics Services was added to COX7B. Panel: Mitochondrial disorders
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Phenotypes
Ellen McDonagh (Genomics England Curator)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
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)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)
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Added New Source
Ellen McDonagh (Genomics England Curator)COX7B was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert,Expert list,Radboud University Medical Center, Nijmegen
Added New Source
Ellen McDonagh (Genomics England Curator)COX7B was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert,Expert list,Radboud University Medical Center, Nijmegen
Added New Source
Ellen McDonagh (Genomics England Curator)COX7B was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert,Expert list,Radboud University Medical Center, Nijmegen