Ehlers Danlos syndrome with a likely monogenic cause
Gene: ATP7AComment on phenotypes: This gene is also associated with Menkes disease, OMIM:309400, Connective Tissues Disorders and Cutis laxaCreated: 18 Mar 2021, 1:25 p.m. | Last Modified: 18 Mar 2021, 1:25 p.m.
Panel Version: 2.10
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: greenCreated: 3 Apr 2019, 3:41 p.m.
Update: it was decided to keep on panel as can present with clinical features overlapping with EDSCreated: 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 phenotypesCreated: 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 EDSCreated: 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
Phenotypes for gene: ATP7A were changed from Menkes disease, 309400; Occipital horn syndrome, 304150; Connective Tissues Disorders; Cutis laxa to Occipital horn syndrome, OMIM:304150
Source NHS GMS was added to ATP7A. 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.
This gene has been classified as Green List (High Evidence).
Publications for ATP7A were set to 28306229;27604308;10739752;11431706;20170900
Phenotypes for ATP7A were set to Menkes disease, 309400; Occipital horn syndrome, 304150; Connective Tissues Disorders; Cutis laxa
Mode of inheritance for ATP7A was changed to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for ATP7A were set to Menkes disease, 309400;Occipital horn syndrome, 304150
Publications for ATP7A were set to 28306229
ATP7A was added to Ehlers-Danlos syndromespanel. Sources: Expert list
ATP7A was created by ellenmcdonagh