1. Genes and Genomic Entities
  2. KANSL1

KANSL1

KAT8 regulatory NSL complex subunit 1
OMIM: 612452, Gene2Phenotype

6 panels

Panel Reviews Mode of inheritance Details
6 panels
Green KANSL1 in IUGR and IGF abnormalities

Level 3: Growth hormone disorders
Level 2: Endocrine disorders
Version 1.70

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
  • Expert list
Phenotypes
  • Koolen-De Vries syndrome, OMIM:610443
  • Facial features
  • Delayed psychomotor development
  • Intellectual disability
Green KANSL1 in Fetal anomalies


Level 2: Fetal (including NIPD)
Version 6.185
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
  • CHROMOSOME 17Q21.31 MICRODELETION SYNDROME
Red KANSL1 in Rare syndromic craniosynostosis or isolated multisuture synostosis


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

review Not set
Sources
  • Expert Review Red
Phenotypes
  • Koolen-de Vries/KANSL haploinsufficiency syndrome.
Green KANSL1 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
    • CHROMOSOME 17Q21.31 MICRODELETION SYNDROME 610443
    Red KANSL1 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
    • Expert Review Red
    Phenotypes
    • Koolen-De Vries syndrome, 610443
    • KDVS
    Green KANSL1 in Intellectual disability


    Level 2: Developmental disorders
    Version 9.370
    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
    • Victorian Clinical Genetics Services
    • Expert Review Green
    • Radboud University Medical Center, Nijmegen
    • Illumina TruGenome Clinical Sequencing Services
    Phenotypes
    • Koolen-De Vries syndrome, 610443
    • Intellectual Disability Syndrome
    • CHROMOSOME 17Q21.31 MICRODELETION SYNDROME