Undiagnosed metabolic disordersGene: ATP7A
Copper treatment: PMID: 19194885.
Created: 10 Aug 2018, noon
Associated with phenotypes in OMIM and as a confirmed G2P for each condition. At least 8 variants reported in Menkes disease 309400, 6 in Occipital horn syndrome 304150 and 2 Spinal muscular atrophy, distal, X-linked 3 300489.
Created: 2 May 2017, 12:56 p.m.
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Unexplained skeletal dysplasia
Added tag Treatable 02 May 2017
Created: 2 May 2017, 12:52 p.m.
Publications for ATP7A were set to 27604308; 10739752; 11431706; 20170900
Phenotypes for ATP7A were set to Menkes disease 309400; Occipital horn syndrome 304150; Spinal muscular atrophy, distal, X-linked 3 300489
This gene has been classified as Green List (High Evidence).
Construction of “Undiagnosed Metabolic Disorders” (UDM) panel • The 614 genes from the neurometabolic gene panel (PMID: 27604308) added • Green genes downloaded from V1 metabolic panels (Cerebral folate deficiency, Congenital disorders of glycosylation, Hyperammonaemia, Ketotic hypoglycaemia, Mitochondrial disorders, Mucopolysaccharideosis, Gaucher, Fabry, Peroxisomal disorders), sources replaced with "Expert review green", then loaded as a review onto UDM panel, resulting in 367 green genes and 333 red (therefore 86 new green genes included from the additional metabolic panels that weren't previously on the UDM panel) • Downloaded green genes from all panels. Removed genes from none V1 panels. Removed genes from the metabolic panels mentioned above. Compared the remaining genes with the red genes from UDM panel. Loaded as an "Expert review Amber" review to the overlapping genes, (the panel name where the genes came from was used as the phenotype) • Used variant information from PMID 27604308 to review the genes on this panel • Reviewed genes on UDM panel with genes from Emory "Inherited Metabolic Disorders: Sequencing Panel" and UKGTN “Inborn Errors of Metabolism 226 panel”, changing status where appropriate, added 14 UKGTN genes that had not be listed before • Review 10 red genes that had not previously been reviewed, 4/10 were reclassified as green • Review the remaining 145 red genes that had not previously been reviewed (shared between reviewers EM, RF, LD, AT, HB, ON & SL), resulting in 60 green, 11 amber, 70 red, 4 I don’t know reviews) • Reviewed genes from PMID: 24816252 as a publication to genes found in the Inborn error or metabolism Genes metabolomics GWAS paper (figure 5). 2 new genes added
Model of inheritance for gene ATP7A was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Model of inheritance for gene ATP7A was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
ATP7A was added to Undiagnosed metabolic disorderspanel. Source: Expert Review Amber Model of inheritance for gene ATP7A was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
ATP7A was created by sleigh
ATP7A was added to Undiagnosed metabolic disorderspanel. Sources: Literature