KAT8

lysine acetyltransferase 8
OMIM: 609912
PanelMode of inheritanceDetails
2 panels
R-numbers: R59
Signed-off version 3.1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Global developmental delay, Intellectual disability, Seizures, Abnormality of vision, Feeding difficulties, Abnormality of the cardiovascular system, Autism
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 4.4
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Global developmental delay, Intellectual disability, Seizures, Abnormality of vision, Feeding difficulties, Abnormality of the cardiovascular system, Autism