Genomics England
GMS Panels
Panels
Genes and Entities

NAA15

N(alpha)-acetyltransferase 15, NatA auxiliary subunit
OMIM: 608000
PanelMode of inheritanceDetails
2 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 5.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
CONGENITAL HEART DISEASE and NEURODEVELOPMENTAL DISORDER
Green
in Intellectual disability
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 8.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Mental retardation, autosomal dominant 50, 617787, Intellectual disability