1. Genes and Genomic Entities
  2. KAT6B

KAT6B

lysine acetyltransferase 6B
OMIM: 605880, Gene2Phenotype

8 panels

Panel Reviews Mode of inheritance Details
8 panels
Green KAT6B in Arthrogryposis


Level 2: Neurology
Version 9.31
Latest signed off version: v9.0 (30 Apr 2025)

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • UKGTN
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Genitopatellar syndrome 606170
Green KAT6B in Skeletal dysplasia


Level 2: Musculoskeletal
Version 8.38
Latest signed off version: v8.0 (30 Apr 2025)

Component of the following Super Panels:

  • Paediatric disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • NHS GMS
    Phenotypes
    • Genitopatellar syndrome 606170
    • SBBYSS syndrome 603736
    • GTPTS,Ohdo
    Green KAT6B in Fetal anomalies


    Level 2: Fetal (including NIPD)
    Version 6.181
    Latest signed off version: v6.0 (30 Apr 2025)

    		review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • PAGE DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • BLEPHAROPHIMOSIS/INTELLECTUAL DISABILITY PHENOTYPE WHICH IS NOONAN-LIKE
    • GENITOPATELLAR SYNDROME
    Green KAT6B in Rare syndromic craniosynostosis or isolated multisuture synostosis


    Level 2: Musculoskeletal
    Version 6.4
    Latest signed off version: v6.0 (30 Apr 2025)

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • NHS GMS
    Phenotypes
    • KAT6B-related disorders
    • Genitopatellar syndrome, OMIM:606170
    Green KAT6B in DDG2P


    Version 6.447
    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
    • BLEPHAROPHIMOSIS/INTELLECTUAL DISABILITY PHENOTYPE WHICH IS NOONAN-LIKE
    • GENITOPATELLAR SYNDROME 606170
    Green KAT6B in Clefting


    Level 2: Musculoskeletal
    Version 6.23
    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
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • Genitopatellar syndrome, OMIM:606170
    • SBBYSS syndrome, OMIM:603736
    Green KAT6B in Intellectual disability


    Level 2: Developmental disorders
    Version 9.345
    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, NOT imprinted
    Sources
    • Expert Review Green
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • SBBYSS syndrome, 603736Genitopatellar syndrome, 606170
    • BLEPHAROPHIMOSIS/INTELLECTUAL DISABILITY PHENOTYPE WHICH IS NOONAN-LIKE
    Red KAT6B in Structural eye disease


    Level 2: Ophthalmology
    Version 4.40
    Latest signed off version: v4.0 (7 Aug 2024)

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • NHS GMS
    Phenotypes
    • SBBYSS syndrome (blepharophimosis), 603736