Genomics England
GMS Panels
Panels
Genes and Entities

ATP7A

ATPase copper transporting alpha
OMIM: 300011
PanelMode of inheritanceDetails
8 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 4.15
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:
  • - Paediatric disorders
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R59
Signed-off version 6.9
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 4.195
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 5.16
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Hereditary Neuropathies
Green
in Intellectual disability
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 7.51
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
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 6.14
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 6.16
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Spinal muscular atrophy, distal, 300489, Menkes disease 309400, Occipital horn syndrome 304150