Ehlers Danlos syndromes

Gene: ATP7A

Green List (high evidence)

ATP7A (ATPase copper transporting alpha)
EnsemblGeneIds (GRCh38): ENSG00000165240
EnsemblGeneIds (GRCh37): ENSG00000165240
OMIM: 300011, Gene2Phenotype
ATP7A is in 21 panels

6 reviews

Ivone Leong (Genomics England Curator)

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

Duncan Baker (Sheffield Genetics)

Green List (high evidence)

Eleanor Williams (Genomics England Curator)

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.

Angela Brady (Nhs)

Green List (high evidence)

Neeti Ghali (NWTRGS, Northwick Park Hospital)

Green List (high evidence)

Louise Daugherty (Genomics England Curator)

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

History Filter Activity

18 Mar 2021, Gel status: 3

Set Phenotypes

Ivone Leong (Genomics England Curator)

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

13 Mar 2019, Gel status: 3

Added New Source, Status Update

Eleanor Williams (Genomics England Curator)

Source NHS GMS was added to ATP7A. Rating Changed from Green List (high evidence) to Green List (high evidence)

25 Jul 2017, Gel status: 4

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.

11 May 2017, Gel status: 4

Gene classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

11 May 2017, Gel status: 0

Set publications

Louise Daugherty (Genomics England Curator)

Publications for ATP7A were set to 28306229;27604308;10739752;11431706;20170900

7 May 2017, Gel status: 0

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for ATP7A were set to Menkes disease, 309400; Occipital horn syndrome, 304150; Connective Tissues Disorders; Cutis laxa

7 May 2017, Gel status: 0

Set Mode of Inheritance

Louise Daugherty (Genomics England Curator)

Mode of inheritance for ATP7A was changed to X-LINKED: hemizygous mutation in males, biallelic mutations in females

7 May 2017, Gel status: 0

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for ATP7A were set to Menkes disease, 309400;Occipital horn syndrome, 304150

2 May 2017, Gel status: 0

Set publications

Louise Daugherty (Genomics England Curator)

Publications for ATP7A were set to 28306229

24 Jan 2017, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

ATP7A was added to Ehlers-Danlos syndromespanel. Sources: Expert list

24 Jan 2017, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

ATP7A was created by ellenmcdonagh