Ehlers Danlos syndrome with a likely monogenic cause

Gene: ABCC6

I don't know

Comment on list classification: Following discussion at the GMS musculoskeletal specialist test group Webex on 2019-06-04, removing this gene from the panel as the associated PXE phenotype is beyond the scope of this panel.

Created: 11 Jun 2019, 10:59 a.m.

This gene was part of an initial gene list collated by Duncan Baker, Sheffield Diagnostic Genetics Service, January 2019 on behalf of the GMS Musculoskeletal Specialist Group; Gene symbol submitted: ABCC6; Suggested initial gene rating: red

Created: 3 Apr 2019, 3:41 p.m.

Red List (low evidence)

Following discussion with Dr G Sobey & Dr F van Dijk - rate red

Created: 3 Apr 2019, 3:44 p.m.

Genes for PXE are not required for this panel

Created: 25 Jan 2019, 8:27 a.m.

this gene has a pseudogene for exons 1-9

Created: 24 Jan 2019, 2:40 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Pseudoxanthoma elasticum OMIM 264800

Green List (high evidence)

Comment on publications: added publication relating to suggested digenic inheritance (with GGCX) is reported in Pseudoxanthoma elasticum- PMID: 18800149

Created: 10 Jul 2017, 2:26 p.m.

from OMIN: ABCC6 causes pseudoxanthoma elasticum (PXE; see 264800), a heritable connective tissue disorder characterized by calcification of elastic fibers in skin, arteries, and retina (PMID:10835643,10835642,10811882)

Created: 10 Jul 2017, 2:17 p.m.