1. Genes and Genomic Entities
  2. KAT5

KAT5

lysine acetyltransferase 5
OMIM: 601409, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels
Amber KAT5 in Fetal anomalies


Level 2: Fetal (including NIPD)
Version 6.157
Latest signed off version: v6.0 (30 Apr 2025)

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • NHS GMS
  • Expert Review Amber
Phenotypes
  • Neurodevelopmental disorder wtih dysmorphic facies, sleep disturbance, and brain abnormalities, OMIM:619103
Green KAT5 in DDG2P


Version 6.426
Latest signed off version: v6.0 (30 Apr 2025)

Component of the following Super Panels:

  • Paediatric disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • KAT5-related Neurodevelopmental Syndrome
    Amber KAT5 in Clefting


    Level 2: Musculoskeletal
    Version 6.22
    Latest signed off version: v6.5 (30 Apr 2025)

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Severe global developmental delay
    • Intellectual disability
    • Seizures
    • Microcephaly
    • Behavioral abnormality
    • Sleep disturbance
    • Morphological abnormality of the central nervous system
    • Short stature
    • Oral cleft
    • Abnormality of the face
    Green KAT5 in Early onset or syndromic epilepsy


    Level 2: Neurology
    Version 8.147
    Latest signed off version: v8.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Paediatric disorders
  • Unexplained death in infancy and sudden unexplained death in childhood

    		•  review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • Wessex and West Midlands GLH
    • NHS GMS
    • Victorian Clinical Genetics Services
    Phenotypes
    • Severe global developmental delay
    • Intellectual disability
    • Seizures
    • Microcephaly
    • Behavioral abnormality
    • Sleep disturbance
    • Morphological abnormality of the central nervous system
    • Short stature
    • Oral cleft
    • Abnormality of the face
    Green KAT5 in Intellectual disability


    Level 2: Developmental disorders
    Version 9.304
    Latest signed off version: v9.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Severe global developmental delay
    • Intellectual disability
    • Seizures
    • Microcephaly
    • Behavioral abnormality
    • Sleep disturbance
    • Morphological abnormality of the central nervous system
    • Short stature
    • Oral cleft
    • Abnormality of the face