1. Genes and Genomic Entities
  2. KAT8

KAT8

lysine acetyltransferase 8
OMIM: 609912, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels
Green KAT8 in Early onset or syndromic epilepsy

Level 3: Inherited Epilepsy Syndromes
Level 2: Neurology and neurodevelopmental disorders
Version 4.193
Latest signed off version: v4.0 (22 Mar 2023)

Component of the following Super Panels:

  • Unexplained death in infancy and sudden unexplained death in childhood

    		•  review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • NHS GMS
    • Expert Review Green
    • Literature
    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
    Tags
    • missense
    • watchlist_moi
    Green KAT8 in Intellectual disability - microarray and sequencing

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 5.532
    Latest signed off version: v5.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • NHS GMS
    • Expert Review Green
    • Literature
    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
    Tags
    • missense