Genomics England
GMS Panels
Panels
Genes and Entities

KAT8

lysine acetyltransferase 8
OMIM: 609912
PanelMode of inheritanceDetails
2 panels
Green
in Early onset or syndromic epilepsy
Component of the following Super Panels:
  • - Paediatric disorders
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R59
Signed-off version 5.10
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Li-Ghorgani-Weisz-Hubshman syndrome, OMIM:618974, Global developmental delay, Intellectual disability, Seizures, Abnormality of vision, Feeding difficulties, Abnormality of the cardiovascular system, Autism
Green
in Intellectual disability
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 6.13
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Li-Ghorgani-Weisz-Hubshman syndrome, OMIM:618974, Global developmental delay, Intellectual disability, Seizures, Abnormality of vision, Feeding difficulties, Abnormality of the cardiovascular system, Autism