Miscellaneous Metabolic Disorders
Gene: ATP7A
Well-established gene-disease association. Menkes disease and Occipital horn syndrome are caused by an inborn error of copper metabolism.
Sources: NHS GMSCreated: 1 Feb 2021, 5:13 a.m.
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Menkes disease MIM#309400; Occipital horn syndrome MIM#304150; disorder of copper matabolism
Publications
Variants in this GENE are reported as part of current diagnostic practice
Menkes disease results from complete loss of transcript, while minimal residual transcript causes the milder OHS. Females have been described with the Occipital horn syndrome phenotype (OMIM).
Missense variants usually lead to splicing defects (PMID: 21221114)Created: 27 Nov 2020, 3:09 a.m. | Last Modified: 27 Nov 2020, 3:09 a.m.
Panel Version: 0.5474
Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
Occipital horn syndrome, 304150; X-linked recessive Menkes disease, 309400 Spinal muscular atrophy, distal, X-linked 3, 300489
Publications
Gene: atp7a has been classified as Green List (High Evidence).
Gene: atp7a has been classified as Green List (High Evidence).
gene: ATP7A was added gene: ATP7A was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS Mode of inheritance for gene: ATP7A was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: ATP7A were set to 7842019; 8981948 Phenotypes for gene: ATP7A were set to Menkes disease MIM#309400; Occipital horn syndrome MIM#304150; disorder of copper matabolism Review for gene: ATP7A was set to GREEN gene: ATP7A was marked as current diagnostic