Genomics England

ATP7A

ATPase copper transporting alpha

Panel	Mode of inheritance	Details
Filter panels8 panels
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 3.1	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Phenotypes SPINAL MUSCULAR ATROPHY, DISTAL, X-LINKED 3 300489, OCCIPITAL HORN SYNDROME 304150, MENKES DISEASE 309400
Green in Early onset or syndromic epilepsy Component of the following Super Panels: - Unexplained death in infancy and sudden unexplained death in childhood R-numbers: R59 Signed-off version 4.0	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Phenotypes Menkes disease 309400
Green in Ehlers Danlos syndrome with a likely monogenic cause R-numbers: R101 Signed-off version 3.0	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Phenotypes Occipital horn syndrome, OMIM:304150
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 3.0	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Phenotypes MENKES DISEASE, OCCIPITAL HORN SYNDROME, SPINAL MUSCULAR ATROPHY, DISTAL, X-LINKED 3
Green in Hereditary neuropathy or pain disorder R-numbers: R78 Signed-off version 3.24	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Phenotypes Hereditary Neuropathies
Green in Intellectual disability - microarray and sequencing Component of the following Super Panels: - Childhood onset leukodystrophy - Hypotonic infant - Paediatric disorders R-numbers: R29 Signed-off version 5.0	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Phenotypes Menkes disease, 309400Occipital horn syndrome, 304150Spinal muscular atrophy, distal, X-linked 3, 300489, OCCIPITAL HORN SYNDROME
Green in Likely inborn error of metabolism - targeted testing not possible Component of the following Super Panels: - Childhood onset leukodystrophy - Hypotonic infant - Paediatric disorders - Unexplained death in infancy and sudden unexplained death in childhood R-numbers: R98 Signed-off version 4.0	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Phenotypes Menkes disease
Green in Skeletal dysplasia Component of the following Super Panels: - Paediatric disorders R-numbers: R104 Signed-off version 4.0	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Phenotypes Spinal muscular atrophy, distal, 300489, Menkes disease 309400, Occipital horn syndrome 304150