Ehlers Danlos syndromes

Gene: COX7B

Red List (low evidence)

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

2 reviews

Angela Brady (Nhs)

Red List (low evidence)

Neeti Ghali (NWTRGS, Northwick Park Hospital)

Red List (low evidence)

Linear skin defects with multiple congenital anomalies 2;300887. Not significant overlap with EDS. Review from EDS National Diagnostic Service North West London Hospital NHS Trust: Dr Angela Brady FRCP PhD, Consultant Clinical Geneticist; Dr Neeti Ghali MBChB MD, Consultant Clinical Geneticist; Dr Fleur S van Dijk MD PhD, Consultant.
Created: 7 Jul 2017, 6:29 p.m.

History Filter Activity

25 Jul 2017, Gel status: 1

panel promoted to version 1

Louise Daugherty (Genomics England Curator)

25 July 2017 Panel reviews were assessed, and panel was revised according to reviews and further curation.

24 Jan 2017, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

COX7B was added to Ehlers-Danlos syndromespanel. Sources: Radboud University Medical Center, Nijmegen

24 Jan 2017, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

COX7B was created by ellenmcdonagh