Ehlers Danlos syndromesGene: ABCC6
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.
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
Pseudoxanthoma elasticum OMIM 264800
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.
Tag curated_removed tag was added to gene: ABCC6.
Gene: abcc6 has been removed from the panel.
Source NHS GMS was added to ABCC6. Rating Changed from Green List (high evidence) to Green List (high evidence)
25 July 2017 Panel reviews were assessed, and panel was revised according to reviews and further curation.
Phenotypes for ABCC6 were set to Pseudoxanthoma elasticum, AR; 264800;Pseudoxanthoma elasticum, forme fruste, AD;177850
Mode of inheritance for ABCC6 was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for ABCC6 were set to 10835643; 10835642; 10811882; 18800149
This gene has been classified as Green List (High Evidence).
Publications for ABCC6 were set to 10835643;10835642;10811882
Mode of inheritance for ABCC6 was changed to BIALLELIC, autosomal or pseudoautosomal
ABCC6 was added to Ehlers-Danlos syndromespanel. Sources: Expert list,Radboud University Medical Center, Nijmegen
ABCC6 was created by ellenmcdonagh