Genes in panel
STRs in panel
Prev Next

Skeletal dysplasia

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

4 reviews

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

Neither gene nor any of the OMIM disorders are listed in the SD nosology paper. Occipital horn syndrome is associated with hyperestensible joints and multiple skeletal abnormlaities (OMIM) - at least 3 cases reported. Green if fits SD.; Review on behalf of Tracy Lester
Created: 6 Mar 2019, 11:44 a.m.

Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females

Phenotypes
Menkes disease 309400; Occipital horn syndrome 304150; Spinal muscular atrophy, distal, 300489

Eleanor Williams (Genomics England Curator)

I don't know

This gene was part of an initial gene list collated by Tracy Lester, Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, February 2019 on behalf of the GMS Musculoskeletal Specialist Group; Gene symbol submitted: ATP7A; Initial rating suggestion: Green if SD
Created: 6 Mar 2019, 11:36 a.m.

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with phenotype in OMIM and G2P. Numerous variants reported in Menkes disease 309400; Occipital horn syndrome 304150 and at least two variants reported in Spinal muscular atrophy, distal, 300489
Created: 27 Jul 2016, 1:28 p.m.

Ana Beleza (Bristol Regional Genetics Service)

Green List (high evidence)

Tier 2
Created: 17 Jun 2016, 8:01 a.m.

Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females

Phenotypes
Menkes disease 309400; Occipital horn syndrome 304150; Spinal muscular atrophy, distal, 300489

Variants in this GENE are reported as part of current diagnostic practice

History Filter Activity

6 May 2019, Gel status: 4

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Added phenotypes Spinal muscular atrophy, distal, 300489; Menkes disease 309400; Occipital horn syndrome 304150 for gene: ATP7A

6 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)

9 Aug 2016, Gel status: 4

panel promoted to version 1

Sarah Leigh (Genomics England Curator)

Promoted to version 1 9th August 2016

27 Jul 2016, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

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

27 Jul 2016, Gel status: 4

Upload gene information

Sarah Leigh (Genomics England Curator)

ATP7A was added to Unexplained skeletal dysplasiapanel. Sources: Emory Genetics Laboratory,Expert list,Radboud University Medical Center, Nijmegen,UKGTN

27 Jul 2016, Gel status: 4

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for ATP7A were set to Menkes disease 309400; Occipital horn syndrome 304150; Spinal muscular atrophy, distal, 300489

27 Jul 2016, Gel status: 4

Set Mode of Inheritance

Sarah Leigh (Genomics England Curator)

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

27 Jul 2016, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

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

18 May 2016, Gel status: 0

Created

Sarah Leigh (Genomics England Curator)

ATP7A was created by sleigh

18 May 2016, Gel status: 0

Added New Source

Sarah Leigh (Genomics England Curator)

ATP7A was added to Unexplained skeletal dysplasiapanel. Sources: