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 2.2
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
R-numbers: R101
Signed-off version 2.3
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Menkes disease, 309400, Occipital horn syndrome, 304150, Connective Tissues Disorders, Cutis laxa
R-numbers: R21
Signed-off version 1.92
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
MENKES DISEASE, OCCIPITAL HORN SYNDROME, SPINAL MUSCULAR ATROPHY, DISTAL, X-LINKED 3
R-numbers: R59
Signed-off version 2.2
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Menkes disease 309400
R-numbers: R78
Signed-off version 1.36
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Hereditary Neuropathies
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R98
Signed-off version 2.3
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Menkes disease
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 3.2
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
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R104
Signed-off version 2.2
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Spinal muscular atrophy, distal, 300489, Menkes disease 309400, Occipital horn syndrome 304150