Skeletal dysplasia
Gene: ATP7A
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 LesterCreated: 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
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 SDCreated: 6 Mar 2019, 11:36 a.m.
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, 300489Created: 27 Jul 2016, 1:28 p.m.
Tier 2Created: 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
Added phenotypes Spinal muscular atrophy, distal, 300489; Menkes disease 309400; Occipital horn syndrome 304150 for gene: ATP7A
Source NHS GMS was added to ATP7A. Rating Changed from Green List (high evidence) to Green List (high evidence)
Promoted to version 1 9th August 2016
This gene has been classified as Green List (High Evidence).
ATP7A was added to Unexplained skeletal dysplasiapanel. Sources: Emory Genetics Laboratory,Expert list,Radboud University Medical Center, Nijmegen,UKGTN
Phenotypes for ATP7A were set to Menkes disease 309400; Occipital horn syndrome 304150; Spinal muscular atrophy, distal, 300489
Mode of inheritance for ATP7A was changed to X-LINKED: hemizygous mutation in males, biallelic mutations in females
This gene has been classified as Green List (High Evidence).
ATP7A was created by sleigh
ATP7A was added to Unexplained skeletal dysplasiapanel. Sources: