Ehlers Danlos syndrome with a likely monogenic cause

Gene: ATP7A

Comment on phenotypes: This gene is also associated with Menkes disease, OMIM:309400, Connective Tissues Disorders and Cutis laxa

Created: 18 Mar 2021, 1:25 p.m. | Last Modified: 18 Mar 2021, 1:25 p.m.

Panel Version: 2.10

Green List (high evidence)

I don't know

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: ATP7A; Suggested initial gene rating: green

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

Green List (high evidence)

Green List (high evidence)

Green List (high evidence)

Update: it was decided to keep on panel as can present with clinical features overlapping with EDS

Created: 12 May 2017, 8:25 a.m.

Comment on list classification: Changed from Red to Green as there is enough evidence in the literature to support the phenotypes

Created: 11 May 2017, 12:07 p.m.

Comment on publications: Associated with phenotypes in OMIM and as a confirmed G2P for each condition. At least 8 variants reported in Menkes disease, 6 variants in Occipital horn syndrome and 2 variants in Spinal muscular atrophy, distal, X-linked, 3.

Created: 11 May 2017, 12:06 p.m.

Update: it was decided to keep on panel as can present with clinical features overlapping with EDS

Created: 11 May 2017, 12:03 p.m.

Comment on phenotypes: Menkes disease includes Joint laxity and Skin laxity phenotype and
Occipital horn syndrome (inludes Joint laxity / Mildly extensible skin. If this panel eligibly statement was expanded to cover other connective tissue types then these genes should be reviewed. Check with clinical team for possible inclusion.

Created: 7 May 2017, 12:04 p.m.

ATP7A is no longer considered since Occipital horn syndrome variants of ATP7A are no longer be included in EDS spectrum anymore (PMID:28306229)

Created: 7 May 2017, noon