Research panel - Severe Paediatric Disorders
Gene: COX7B

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

1 review

Louise Daugherty (Genomics England Curator)

I don't know

Initial gene list (NGC_genelist-20190823_GREEN_dis_moi_forCuration_20200211.xlsx) collated by Dr Courtney French (University of Cambridge University Hospital NHS Foundation), Dr Karyn Megy (Clinical Feedback Lead, NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation), Dr Alba Sanchis-Juan (NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation) and Lucy Raymond (Professor of Medical Genetics and Neurodevelopment, University of Cambridge University Hospital NHS Foundation). Submitted to the PanelApp resource January 2020 on behalf of the Next Generation Children Project, Addenbrookes' Hospital, Cambridge. Gene Symbol submitted: COX7B; Recommended initial gene rating: Green List (high evidence); Phenotypes: Linear skin defects with multiple congenital anomalies 2, 300887 (3); Mode of inheritance: X-linked dominant
Created: 20 Feb 2020, 5:17 p.m. | Last Modified: 20 Feb 2020, 5:17 p.m.

Panel Version: 0.12

Created: 20 Feb 2020, 5:17 p.m.
Last Modified: 20 Feb 2020, 5:17 p.m.
Panel version: 0.12

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

Next Generation Children Project
Expert Review Green
Expert list

Phenotypes

Linear skin defects with multiple congenital anomalies 2, 300887

OMIM

300885

Clinvar variants

Variants in COX7B

Penetrance

None

Publications

30847515

Panels with this gene