NAA30

N(alpha)-acetyltransferase 30, NatC catalytic subunit
Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels
Red NAA30 in Mendeliome


Version 1.2302

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • neurodevelopmental disorder, MONDO:0700092, NAA30-related
Red NAA30 in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 1.63

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • neurodevelopmental disorder, MONDO:0700092, NAA30-related