Skeletal dysplasia

Gene: ATP7A

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

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.

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.

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