Ehlers Danlos syndrome with a likely monogenic cause
Gene: COX7B

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)

Created: 7 Jul 2017, 6:29 p.m.

Panel version: 0.401

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.

Created: 7 Jul 2017, 6:29 p.m.

Panel version: 0.401

Details

Sources

Radboud University Medical Center, Nijmegen

Phenotypes

Aplasia cutis congenita, reticulolinear, with mmicrocephaly, facial dysmorphism and other congenital anomalies, 300887

OMIM

300885

Clinvar variants

Variants in COX7B

Penetrance

Complete

Panels with this gene

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