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Skeletal dysplasia v1.0 ATP7A Gene migrated from ENSG00000165240 to ENSG00000165240 (gene set migration)
Skeletal dysplasia v0.0 ATP7A Zornitza Stark gene: ATP7A was added
gene: ATP7A was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Radboud University Medical Center, Nijmegen,Expert Review Green,UKGTN
Mode of inheritance for gene: ATP7A was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: ATP7A were set to Spinal muscular atrophy, distal, 300489; Menkes disease 309400; Occipital horn syndrome 304150