NAA10

N(alpha)-acetyltransferase 10, NatA catalytic subunit
OMIM: 300013
PanelMode of inheritanceDetails
4 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.2
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
X-linked anophthalmia syndrome/Lenz, NONPECIFIC SEVERE ID, X-linked anophthalmia syndrome, OGDEN SYNDROME 300855
R-numbers: R21
Signed-off version 1.92
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
X-linked anophthalmia syndrome/Lenz, OGDEN SYNDROME, NONPECIFIC SEVERE ID, X-linked anophthalmia syndrome
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, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
N-terminal acetyltransferase deficiency, 300855, NONPECIFIC SEVERE ID
R-numbers: R36
Signed-off version 1.3
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
Microphthalmia, syndromic 1, 309800